Canonical Allele Identifier: CA10378295

Gene: DMD

Linked Data

• dbSNP Id: rs754085506
• ExAC: X:31792341 A / G
• gnomAD v2: X-31792341-A-G
• gnomAD v3: X-31774224-A-G
• gnomAD v4: X-31774224-A-G
• MyVariant Identifiers: chrX:g.31792341A>G (hg19) ; chrX:g.31774224A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774224A>G , CM000685.2:g.31774224A>G	GRCh38
NC_000023.10:g.31792341A>G , CM000685.1:g.31792341A>G	GRCh37
NC_000023.9:g.31702262A>G	NCBI36
NG_012232.1:g.1570386T>C , LRG_199:g.1570386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2156-32T>C	ENSP00000350765.3:n.2156-32T>C
ENST00000682238.1:c.-71-32T>C	ENSP00000508124.1:n.-71-32T>C
ENST00000683117.1:n.971-32T>C
ENST00000683450.1:n.893-32T>C
ENST00000683851.1:n.971-32T>C
ENST00000683957.1:n.802-32T>C
ENST00000684130.1:c.-71-32T>C	ENSP00000508037.1:n.-71-32T>C
ENST00000357033.9:c.7310-32T>C MANE Select	ENSP00000354923.3:n.7310-32T>C
ENST00000619831.5:c.3278-32T>C	ENSP00000479270.2:n.3278-32T>C
ENST00000620040.5:c.-71-32T>C	ENSP00000478150.2:n.-71-32T>C
ENST00000680961.1:c.-71-32T>C	ENSP00000506386.1:n.-71-32T>C
ENST00000681646.1:n.971-32T>C
ENST00000681839.1:c.299-32T>C	ENSP00000505228.1:n.299-32T>C
ENST00000357033.8:c.7310-32T>C	ENSP00000354923.3:n.7310-32T>C
ENST00000358062.6:c.398-32T>C	ENSP00000350765.2:n.398-32T>C
ENST00000359836.5:c.-71-32T>C	ENSP00000352894.1:n.-71-32T>C
ENST00000378677.6:c.7298-32T>C	ENSP00000367948.2:n.7298-32T>C
ENST00000378707.7:c.-71-32T>C	ENSP00000367979.3:n.-71-32T>C
ENST00000471779.1:c.67-32T>C	ENSP00000417075.1:n.67-32T>C
ENST00000474231.5:c.-71-32T>C	ENSP00000417123.1:n.-71-32T>C
ENST00000541735.5:c.-71-32T>C	ENSP00000444119.1:n.-71-32T>C
ENST00000619831.4:c.7295-32T>C	ENSP00000479270.1:n.7295-32T>C
ENST00000620040.4:c.7307-32T>C	ENSP00000478150.1:n.7307-32T>C
NM_000109.3:c.7286-32T>C	NP_000100.2:n.7286-32T>C
NM_004006.2:c.7310-32T>C , LRG_199t1:c.7310-32T>C	NP_003997.1:n.7310-32T>C
NM_004009.3:c.7298-32T>C	NP_004000.1:n.7298-32T>C
NM_004010.3:c.6941-32T>C	NP_004001.1:n.6941-32T>C
NM_004011.3:c.3287-32T>C	NP_004002.2:n.3287-32T>C
NM_004012.3:c.3278-32T>C	NP_004003.1:n.3278-32T>C
NM_004013.2:c.-71-32T>C	NP_004004.1:n.-71-32T>C
NM_004020.3:c.-71-32T>C	NP_004011.2:n.-71-32T>C
NM_004021.2:c.-71-32T>C	NP_004012.1:n.-71-32T>C
NM_004022.2:c.-71-32T>C	NP_004013.1:n.-71-32T>C
NM_004023.2:c.-71-32T>C	NP_004014.1:n.-71-32T>C
XM_006724468.2:c.7310-32T>C	XP_006724531.1:n.7310-32T>C
XM_006724469.2:c.7286-32T>C	XP_006724532.1:n.7286-32T>C
XM_006724470.2:c.7310-32T>C	XP_006724533.1:n.7310-32T>C
XM_006724471.2:c.7310-32T>C	XP_006724534.1:n.7310-32T>C
XM_006724472.2:c.7181-32T>C	XP_006724535.1:n.7181-32T>C
XM_006724473.2:c.7172-32T>C	XP_006724536.1:n.7172-32T>C
XM_006724474.2:c.7310-32T>C	XP_006724537.1:n.7310-32T>C
XM_006724475.2:c.7310-32T>C	XP_006724538.1:n.7310-32T>C
XM_011545467.1:c.7187-32T>C	XP_011543769.1:n.7187-32T>C
XM_011545468.1:c.7310-32T>C	XP_011543770.1:n.7310-32T>C
XM_006724469.3:c.7286-32T>C	XP_006724532.1:n.7286-32T>C
XM_006724470.3:c.7310-32T>C	XP_006724533.1:n.7310-32T>C
XM_006724474.3:c.7310-32T>C	XP_006724537.1:n.7310-32T>C
XM_011545468.2:c.7310-32T>C	XP_011543770.1:n.7310-32T>C
XM_017029328.1:c.7310-32T>C	XP_016884817.1:n.7310-32T>C
XM_017029331.1:c.1484-32T>C	XP_016884820.1:n.1484-32T>C
NM_000109.4:c.7286-32T>C	NP_000100.3:n.7286-32T>C
NM_004006.3:c.7310-32T>C MANE Select	NP_003997.2:n.7310-32T>C
NM_004011.4:c.3287-32T>C	NP_004002.3:n.3287-32T>C
NM_004012.4:c.3278-32T>C	NP_004003.2:n.3278-32T>C
NM_004021.3:c.-71-32T>C	NP_004012.2:n.-71-32T>C
NM_004023.3:c.-71-32T>C	NP_004014.2:n.-71-32T>C
NM_004013.3:c.-71-32T>C	NP_004004.2:n.-71-32T>C
NM_004020.4:c.-71-32T>C	NP_004011.3:n.-71-32T>C
NM_004022.3:c.-71-32T>C	NP_004013.2:n.-71-32T>C