Canonical Allele Identifier: CA412666099
Gene: DMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32343229A>G , CM000685.2:g.32343229A>G GRCh38
NC_000023.10:g.32361346A>G , CM000685.1:g.32361346A>G GRCh37
NC_000023.9:g.32271267A>G NCBI36
NG_012232.1:g.1001381T>C , LRG_199:g.1001381T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.490T>C ENSP00000350765.3:p.Tyr164His
ENST00000357033.9:c.5644T>C MANE Select ENSP00000354923.3:p.Tyr1882His
ENST00000619831.5:c.1612T>C ENSP00000479270.2:p.Tyr538His
ENST00000357033.8:c.5644T>C ENSP00000354923.3:p.Tyr1882His
ENST00000378677.6:c.5632T>C ENSP00000367948.2:p.Tyr1878His
ENST00000488902.5:n.336-126166T>C
ENST00000493412.1:c.301T>C ENSP00000417725.1:p.Tyr101His
ENST00000619831.4:c.5632T>C ENSP00000479270.1:p.Tyr1878His
ENST00000620040.4:c.5644T>C ENSP00000478150.1:p.Tyr1882His
NM_000109.3:c.5620T>C NP_000100.2:p.Tyr1874His
NM_004006.2:c.5644T>C , LRG_199t1:c.5644T>C NP_003997.1:p.Tyr1882His
NM_004009.3:c.5632T>C NP_004000.1:p.Tyr1878His
NM_004010.3:c.5275T>C NP_004001.1:p.Tyr1759His
NM_004011.3:c.1621T>C NP_004002.2:p.Tyr541His
NM_004012.3:c.1612T>C NP_004003.1:p.Tyr538His
XM_006724468.2:c.5644T>C XP_006724531.1:p.Tyr1882His
XM_006724469.2:c.5620T>C XP_006724532.1:p.Tyr1874His
XM_006724470.2:c.5644T>C XP_006724533.1:p.Tyr1882His
XM_006724471.2:c.5644T>C XP_006724534.1:p.Tyr1882His
XM_006724472.2:c.5515T>C XP_006724535.1:p.Tyr1839His
XM_006724473.2:c.5506T>C XP_006724536.1:p.Tyr1836His
XM_006724474.2:c.5644T>C XP_006724537.1:p.Tyr1882His
XM_006724475.2:c.5644T>C XP_006724538.1:p.Tyr1882His
XM_011545467.1:c.5521T>C XP_011543769.1:p.Tyr1841His
XM_011545468.1:c.5644T>C XP_011543770.1:p.Tyr1882His
XM_011545469.1:c.5644T>C XP_011543771.1:p.Tyr1882His
XM_006724469.3:c.5620T>C XP_006724532.1:p.Tyr1874His
XM_006724470.3:c.5644T>C XP_006724533.1:p.Tyr1882His
XM_006724474.3:c.5644T>C XP_006724537.1:p.Tyr1882His
XM_011545468.2:c.5644T>C XP_011543770.1:p.Tyr1882His
XM_017029328.1:c.5644T>C XP_016884817.1:p.Tyr1882His
XM_017029329.1:c.5644T>C XP_016884818.1:p.Tyr1882His
XM_017029330.2:c.5644T>C XP_016884819.1:p.Tyr1882His
NM_000109.4:c.5620T>C NP_000100.3:p.Tyr1874His
NM_004006.3:c.5644T>C MANE Select NP_003997.2:p.Tyr1882His
NM_004011.4:c.1621T>C NP_004002.3:p.Tyr541His
NM_004012.4:c.1612T>C NP_004003.2:p.Tyr538His