Canonical Allele Identifier: CA10378475

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32216940A>G , CM000685.2:g.32216940A>G	GRCh38
NC_000023.10:g.32235057A>G , CM000685.1:g.32235057A>G	GRCh37
NC_000023.9:g.32144978A>G	NCBI36
NG_012232.1:g.1127670T>C , LRG_199:g.1127670T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1260T>C	ENSP00000350765.3:p.His420=
ENST00000357033.9:c.6414T>C MANE Select	ENSP00000354923.3:p.His2138=
ENST00000619831.5:c.2382T>C	ENSP00000479270.2:p.His794=
ENST00000357033.8:c.6414T>C	ENSP00000354923.3:p.His2138=
ENST00000378677.6:c.6402T>C	ENSP00000367948.2:p.His2134=
ENST00000488902.5:n.459T>C
ENST00000619831.4:c.6402T>C	ENSP00000479270.1:p.His2134=
ENST00000620040.4:c.6414T>C	ENSP00000478150.1:p.His2138=
NM_000109.3:c.6390T>C	NP_000100.2:p.His2130=
NM_004006.2:c.6414T>C , LRG_199t1:c.6414T>C	NP_003997.1:p.His2138=
NM_004009.3:c.6402T>C	NP_004000.1:p.His2134=
NM_004010.3:c.6045T>C	NP_004001.1:p.His2015=
NM_004011.3:c.2391T>C	NP_004002.2:p.His797=
NM_004012.3:c.2382T>C	NP_004003.1:p.His794=
XM_006724468.2:c.6414T>C	XP_006724531.1:p.His2138=
XM_006724469.2:c.6390T>C	XP_006724532.1:p.His2130=
XM_006724470.2:c.6414T>C	XP_006724533.1:p.His2138=
XM_006724471.2:c.6414T>C	XP_006724534.1:p.His2138=
XM_006724472.2:c.6285T>C	XP_006724535.1:p.His2095=
XM_006724473.2:c.6276T>C	XP_006724536.1:p.His2092=
XM_006724474.2:c.6414T>C	XP_006724537.1:p.His2138=
XM_006724475.2:c.6414T>C	XP_006724538.1:p.His2138=
XM_011545467.1:c.6291T>C	XP_011543769.1:p.His2097=
XM_011545468.1:c.6414T>C	XP_011543770.1:p.His2138=
XM_006724469.3:c.6390T>C	XP_006724532.1:p.His2130=
XM_006724470.3:c.6414T>C	XP_006724533.1:p.His2138=
XM_006724474.3:c.6414T>C	XP_006724537.1:p.His2138=
XM_011545468.2:c.6414T>C	XP_011543770.1:p.His2138=
XM_017029328.1:c.6414T>C	XP_016884817.1:p.His2138=
XM_017029329.1:c.6414T>C	XP_016884818.1:p.His2138=
XM_017029330.2:c.6414T>C	XP_016884819.1:p.His2138=
XM_017029331.1:c.588T>C	XP_016884820.1:p.His196=
NM_000109.4:c.6390T>C	NP_000100.3:p.His2130=
NM_004006.3:c.6414T>C MANE Select	NP_003997.2:p.His2138=
NM_004011.4:c.2391T>C	NP_004002.3:p.His797=
NM_004012.4:c.2382T>C	NP_004003.2:p.His794=