Canonical Allele Identifier: CA515859311

Gene: DMD

Linked Data

• dbSNP Id: rs939673895
• gnomAD v2: X-31792125-C-G
• gnomAD v4: X-31774008-C-G
• MyVariant Identifiers: chrX:g.31792125C>G (hg19) ; chrX:g.31774008C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774008C>G , CM000685.2:g.31774008C>G	GRCh38
NC_000023.10:g.31792125C>G , CM000685.1:g.31792125C>G	GRCh37
NC_000023.9:g.31702046C>G	NCBI36
NG_012232.1:g.1570602G>C , LRG_199:g.1570602G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2340G>C	ENSP00000350765.3:p.Val780=
ENST00000682238.1:c.114G>C	ENSP00000508124.1:p.Val38=
ENST00000683117.1:n.1155G>C
ENST00000683450.1:n.1077G>C
ENST00000683851.1:n.1155G>C
ENST00000683957.1:n.986G>C
ENST00000684130.1:c.114G>C	ENSP00000508037.1:p.Val38=
ENST00000357033.9:c.7494G>C MANE Select	ENSP00000354923.3:p.Val2498=
ENST00000619831.5:c.3462G>C	ENSP00000479270.2:p.Val1154=
ENST00000620040.5:c.114G>C	ENSP00000478150.2:p.Val38=
ENST00000680961.1:c.114G>C	ENSP00000506386.1:p.Val38=
ENST00000681646.1:n.1155G>C
ENST00000681839.1:c.483G>C	ENSP00000505228.1:p.Val161=
ENST00000357033.8:c.7494G>C	ENSP00000354923.3:p.Val2498=
ENST00000358062.6:c.582G>C	ENSP00000350765.2:p.Val194=
ENST00000359836.5:c.114G>C	ENSP00000352894.1:p.Val38=
ENST00000378677.6:c.7482G>C	ENSP00000367948.2:p.Val2494=
ENST00000378707.7:c.114G>C	ENSP00000367979.3:p.Val38=
ENST00000471779.1:c.251G>C	ENSP00000417075.1:n.251G>C
ENST00000474231.5:c.114G>C	ENSP00000417123.1:p.Val38=
ENST00000541735.5:c.114G>C	ENSP00000444119.1:p.Val38=
ENST00000619831.4:c.7479G>C	ENSP00000479270.1:p.Val2493=
ENST00000620040.4:c.7491G>C	ENSP00000478150.1:p.Val2497=
NM_000109.3:c.7470G>C	NP_000100.2:p.Val2490=
NM_004006.2:c.7494G>C , LRG_199t1:c.7494G>C	NP_003997.1:p.Val2498=
NM_004009.3:c.7482G>C	NP_004000.1:p.Val2494=
NM_004010.3:c.7125G>C	NP_004001.1:p.Val2375=
NM_004011.3:c.3471G>C	NP_004002.2:p.Val1157=
NM_004012.3:c.3462G>C	NP_004003.1:p.Val1154=
NM_004013.2:c.114G>C	NP_004004.1:p.Val38=
NM_004020.3:c.114G>C	NP_004011.2:p.Val38=
NM_004021.2:c.114G>C	NP_004012.1:p.Val38=
NM_004022.2:c.114G>C	NP_004013.1:p.Val38=
NM_004023.2:c.114G>C	NP_004014.1:p.Val38=
XM_006724468.2:c.7494G>C	XP_006724531.1:p.Val2498=
XM_006724469.2:c.7470G>C	XP_006724532.1:p.Val2490=
XM_006724470.2:c.7494G>C	XP_006724533.1:p.Val2498=
XM_006724471.2:c.7494G>C	XP_006724534.1:p.Val2498=
XM_006724472.2:c.7365G>C	XP_006724535.1:p.Val2455=
XM_006724473.2:c.7356G>C	XP_006724536.1:p.Val2452=
XM_006724474.2:c.7494G>C	XP_006724537.1:p.Val2498=
XM_006724475.2:c.7494G>C	XP_006724538.1:p.Val2498=
XM_011545467.1:c.7371G>C	XP_011543769.1:p.Val2457=
XM_011545468.1:c.7494G>C	XP_011543770.1:p.Val2498=
XM_006724469.3:c.7470G>C	XP_006724532.1:p.Val2490=
XM_006724470.3:c.7494G>C	XP_006724533.1:p.Val2498=
XM_006724474.3:c.7494G>C	XP_006724537.1:p.Val2498=
XM_011545468.2:c.7494G>C	XP_011543770.1:p.Val2498=
XM_017029328.1:c.7494G>C	XP_016884817.1:p.Val2498=
XM_017029331.1:c.1668G>C	XP_016884820.1:p.Val556=
NM_000109.4:c.7470G>C	NP_000100.3:p.Val2490=
NM_004006.3:c.7494G>C MANE Select	NP_003997.2:p.Val2498=
NM_004011.4:c.3471G>C	NP_004002.3:p.Val1157=
NM_004012.4:c.3462G>C	NP_004003.2:p.Val1154=
NM_004021.3:c.114G>C	NP_004012.2:p.Val38=
NM_004023.3:c.114G>C	NP_004014.2:p.Val38=
NM_004013.3:c.114G>C	NP_004004.2:p.Val38=
NM_004020.4:c.114G>C	NP_004011.3:p.Val38=
NM_004022.3:c.114G>C	NP_004013.2:p.Val38=