Canonical Allele Identifier: CA515858224

Gene: DMD

Linked Data

• gnomAD v4: X-31444532-C-A
• MyVariant Identifiers: chrX:g.31462649C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444532C>A , CM000685.2:g.31444532C>A	GRCh38
NC_000023.10:g.31462649C>A , CM000685.1:g.31462649C>A	GRCh37
NC_000023.9:g.31372570C>A	NCBI36
NG_012232.1:g.1900078G>T , LRG_199:g.1900078G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3879G>T	ENSP00000350765.3:p.Pro1293=
ENST00000682238.1:c.1653G>T	ENSP00000508124.1:p.Pro551=
ENST00000683450.1:n.2498G>T
ENST00000683957.1:n.2525G>T
ENST00000684130.1:c.1653G>T	ENSP00000508037.1:p.Pro551=
ENST00000343523.7:c.888G>T	ENSP00000340057.4:p.Pro296=
ENST00000357033.9:c.9033G>T MANE Select	ENSP00000354923.3:p.Pro3011=
ENST00000619831.5:c.5001G>T	ENSP00000479270.2:p.Pro1667=
ENST00000620040.5:c.1653G>T	ENSP00000478150.2:p.Pro551=
ENST00000680961.1:c.1653G>T	ENSP00000506386.1:p.Pro551=
ENST00000681646.1:n.2694G>T
ENST00000343523.6:c.846G>T	ENSP00000340057.3:p.Pro282=
ENST00000357033.8:c.9033G>T	ENSP00000354923.3:p.Pro3011=
ENST00000358062.6:c.2121G>T	ENSP00000350765.2:p.Pro707=
ENST00000359836.5:c.1653G>T	ENSP00000352894.1:p.Pro551=
ENST00000378677.6:c.9021G>T	ENSP00000367948.2:p.Pro3007=
ENST00000378707.7:c.1653G>T	ENSP00000367979.3:p.Pro551=
ENST00000474231.5:c.1653G>T	ENSP00000417123.1:p.Pro551=
ENST00000541735.5:c.1653G>T	ENSP00000444119.1:p.Pro551=
ENST00000619831.4:c.9018G>T	ENSP00000479270.1:p.Pro3006=
ENST00000620040.4:c.9030G>T	ENSP00000478150.1:p.Pro3010=
NM_000109.3:c.9009G>T	NP_000100.2:p.Pro3003=
NM_004006.2:c.9033G>T , LRG_199t1:c.9033G>T	NP_003997.1:p.Pro3011=
NM_004009.3:c.9021G>T	NP_004000.1:p.Pro3007=
NM_004010.3:c.8664G>T	NP_004001.1:p.Pro2888=
NM_004011.3:c.5010G>T	NP_004002.2:p.Pro1670=
NM_004012.3:c.5001G>T	NP_004003.1:p.Pro1667=
NM_004013.2:c.1653G>T	NP_004004.1:p.Pro551=
NM_004014.2:c.846G>T	NP_004005.1:p.Pro282=
NM_004020.3:c.1653G>T	NP_004011.2:p.Pro551=
NM_004021.2:c.1653G>T	NP_004012.1:p.Pro551=
NM_004022.2:c.1653G>T	NP_004013.1:p.Pro551=
NM_004023.2:c.1653G>T	NP_004014.1:p.Pro551=
XM_006724468.2:c.9033G>T	XP_006724531.1:p.Pro3011=
XM_006724469.2:c.9009G>T	XP_006724532.1:p.Pro3003=
XM_006724470.2:c.9033G>T	XP_006724533.1:p.Pro3011=
XM_006724471.2:c.9033G>T	XP_006724534.1:p.Pro3011=
XM_006724472.2:c.8904G>T	XP_006724535.1:p.Pro2968=
XM_006724473.2:c.8895G>T	XP_006724536.1:p.Pro2965=
XM_006724474.2:c.9033G>T	XP_006724537.1:p.Pro3011=
XM_006724475.2:c.9033G>T	XP_006724538.1:p.Pro3011=
XM_011545467.1:c.8910G>T	XP_011543769.1:p.Pro2970=
XM_011545468.1:c.9033G>T	XP_011543770.1:p.Pro3011=
XM_006724469.3:c.9009G>T	XP_006724532.1:p.Pro3003=
XM_006724470.3:c.9033G>T	XP_006724533.1:p.Pro3011=
XM_006724474.3:c.9033G>T	XP_006724537.1:p.Pro3011=
XM_011545468.2:c.9033G>T	XP_011543770.1:p.Pro3011=
XM_017029328.1:c.9033G>T	XP_016884817.1:p.Pro3011=
XM_017029331.1:c.3207G>T	XP_016884820.1:p.Pro1069=
NM_000109.4:c.9009G>T	NP_000100.3:p.Pro3003=
NM_004006.3:c.9033G>T MANE Select	NP_003997.2:p.Pro3011=
NM_004011.4:c.5010G>T	NP_004002.3:p.Pro1670=
NM_004012.4:c.5001G>T	NP_004003.2:p.Pro1667=
NM_004021.3:c.1653G>T	NP_004012.2:p.Pro551=
NM_004023.3:c.1653G>T	NP_004014.2:p.Pro551=
NM_004013.3:c.1653G>T	NP_004004.2:p.Pro551=
NM_004014.3:c.846G>T	NP_004005.2:p.Pro282=
NM_004020.4:c.1653G>T	NP_004011.3:p.Pro551=
NM_004022.3:c.1653G>T	NP_004013.2:p.Pro551=