Canonical Allele Identifier: CA412659128

Gene: DMD

Linked Data

• gnomAD v4: X-31774156-A-G
• MyVariant Identifiers: chrX:g.31792273A>G (hg19) ; chrX:g.31774156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774156A>G , CM000685.2:g.31774156A>G	GRCh38
NC_000023.10:g.31792273A>G , CM000685.1:g.31792273A>G	GRCh37
NC_000023.9:g.31702194A>G	NCBI36
NG_012232.1:g.1570454T>C , LRG_199:g.1570454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2192T>C	ENSP00000350765.3:p.Val731Ala
ENST00000682238.1:c.-35T>C	ENSP00000508124.1:n.-35T>C
ENST00000683117.1:n.1007T>C
ENST00000683450.1:n.929T>C
ENST00000683851.1:n.1007T>C
ENST00000683957.1:n.838T>C
ENST00000684130.1:c.-35T>C	ENSP00000508037.1:n.-35T>C
ENST00000357033.9:c.7346T>C MANE Select	ENSP00000354923.3:p.Val2449Ala
ENST00000619831.5:c.3314T>C	ENSP00000479270.2:p.Val1105Ala
ENST00000620040.5:c.-35T>C	ENSP00000478150.2:n.-35T>C
ENST00000680961.1:c.-35T>C	ENSP00000506386.1:n.-35T>C
ENST00000681646.1:n.1007T>C
ENST00000681839.1:c.335T>C	ENSP00000505228.1:p.Val112Ala
ENST00000357033.8:c.7346T>C	ENSP00000354923.3:p.Val2449Ala
ENST00000358062.6:c.434T>C	ENSP00000350765.2:p.Val145Ala
ENST00000359836.5:c.-35T>C	ENSP00000352894.1:n.-35T>C
ENST00000378677.6:c.7334T>C	ENSP00000367948.2:p.Val2445Ala
ENST00000378707.7:c.-35T>C	ENSP00000367979.3:n.-35T>C
ENST00000471779.1:c.103T>C	ENSP00000417075.1:n.103T>C
ENST00000474231.5:c.-35T>C	ENSP00000417123.1:n.-35T>C
ENST00000541735.5:c.-35T>C	ENSP00000444119.1:n.-35T>C
ENST00000619831.4:c.7331T>C	ENSP00000479270.1:p.Val2444Ala
ENST00000620040.4:c.7343T>C	ENSP00000478150.1:p.Val2448Ala
NM_000109.3:c.7322T>C	NP_000100.2:p.Val2441Ala
NM_004006.2:c.7346T>C , LRG_199t1:c.7346T>C	NP_003997.1:p.Val2449Ala
NM_004009.3:c.7334T>C	NP_004000.1:p.Val2445Ala
NM_004010.3:c.6977T>C	NP_004001.1:p.Val2326Ala
NM_004011.3:c.3323T>C	NP_004002.2:p.Val1108Ala
NM_004012.3:c.3314T>C	NP_004003.1:p.Val1105Ala
NM_004013.2:c.-35T>C	NP_004004.1:n.-35T>C
NM_004020.3:c.-35T>C	NP_004011.2:n.-35T>C
NM_004021.2:c.-35T>C	NP_004012.1:n.-35T>C
NM_004022.2:c.-35T>C	NP_004013.1:n.-35T>C
NM_004023.2:c.-35T>C	NP_004014.1:n.-35T>C
XM_006724468.2:c.7346T>C	XP_006724531.1:p.Val2449Ala
XM_006724469.2:c.7322T>C	XP_006724532.1:p.Val2441Ala
XM_006724470.2:c.7346T>C	XP_006724533.1:p.Val2449Ala
XM_006724471.2:c.7346T>C	XP_006724534.1:p.Val2449Ala
XM_006724472.2:c.7217T>C	XP_006724535.1:p.Val2406Ala
XM_006724473.2:c.7208T>C	XP_006724536.1:p.Val2403Ala
XM_006724474.2:c.7346T>C	XP_006724537.1:p.Val2449Ala
XM_006724475.2:c.7346T>C	XP_006724538.1:p.Val2449Ala
XM_011545467.1:c.7223T>C	XP_011543769.1:p.Val2408Ala
XM_011545468.1:c.7346T>C	XP_011543770.1:p.Val2449Ala
XM_006724469.3:c.7322T>C	XP_006724532.1:p.Val2441Ala
XM_006724470.3:c.7346T>C	XP_006724533.1:p.Val2449Ala
XM_006724474.3:c.7346T>C	XP_006724537.1:p.Val2449Ala
XM_011545468.2:c.7346T>C	XP_011543770.1:p.Val2449Ala
XM_017029328.1:c.7346T>C	XP_016884817.1:p.Val2449Ala
XM_017029331.1:c.1520T>C	XP_016884820.1:p.Val507Ala
NM_000109.4:c.7322T>C	NP_000100.3:p.Val2441Ala
NM_004006.3:c.7346T>C MANE Select	NP_003997.2:p.Val2449Ala
NM_004011.4:c.3323T>C	NP_004002.3:p.Val1108Ala
NM_004012.4:c.3314T>C	NP_004003.2:p.Val1105Ala
NM_004021.3:c.-35T>C	NP_004012.2:n.-35T>C
NM_004023.3:c.-35T>C	NP_004014.2:n.-35T>C
NM_004013.3:c.-35T>C	NP_004004.2:n.-35T>C
NM_004020.4:c.-35T>C	NP_004011.3:n.-35T>C
NM_004022.3:c.-35T>C	NP_004013.2:n.-35T>C