Canonical Allele Identifier: CA10379196
Community Standard Title: NM_004006.3(DMD):c.3753C>T (p.Cys1251=)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32448489G>A , CM000685.2:g.32448489G>A GRCh38
NC_000023.10:g.32466606G>A , CM000685.1:g.32466606G>A GRCh37
NC_000023.9:g.32376527G>A NCBI36
NG_012232.1:g.896121C>T , LRG_199:g.896121C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.3753C>T MANE Select NP_003997.2:p.Cys1251=
ENST00000357033.9:c.3753C>T MANE Select ENSP00000354923.3:p.Cys1251=
NM_000109.3:c.3729C>T NP_000100.2:p.Cys1243=
NM_000109.4:c.3729C>T NP_000100.3:p.Cys1243=
NM_004006.2:c.3753C>T , LRG_199t1:c.3753C>T NP_003997.1:p.Cys1251=
NM_004009.3:c.3741C>T NP_004000.1:p.Cys1247=
NM_004010.3:c.3384C>T NP_004001.1:p.Cys1128=
ENST00000357033.8:c.3753C>T ENSP00000354923.3:p.Cys1251=
ENST00000378677.6:c.3741C>T ENSP00000367948.2:p.Cys1247=
ENST00000420596.5:c.94-83290C>T ENSP00000399897.1:n.94-83290C>T
ENST00000448370.5:c.94-83779C>T ENSP00000388559.1:n.94-83779C>T
ENST00000488902.5:n.336-231426C>T
ENST00000619831.4:c.3741C>T ENSP00000479270.1:p.Cys1247=
ENST00000620040.4:c.3753C>T ENSP00000478150.1:p.Cys1251=
ENST00000682899.1:n.3960C>T
XM_006724468.2:c.3753C>T XP_006724531.1:p.Cys1251=
XM_006724469.2:c.3729C>T XP_006724532.1:p.Cys1243=
XM_006724469.3:c.3729C>T XP_006724532.1:p.Cys1243=
XM_006724470.2:c.3753C>T XP_006724533.1:p.Cys1251=
XM_006724470.3:c.3753C>T XP_006724533.1:p.Cys1251=
XM_006724471.2:c.3753C>T XP_006724534.1:p.Cys1251=
XM_006724472.2:c.3624C>T XP_006724535.1:p.Cys1208=
XM_006724473.2:c.3753C>T XP_006724536.1:p.Cys1251=
XM_006724474.2:c.3753C>T XP_006724537.1:p.Cys1251=
XM_006724474.3:c.3753C>T XP_006724537.1:p.Cys1251=
XM_006724475.2:c.3753C>T XP_006724538.1:p.Cys1251=
XM_011545467.1:c.3753C>T XP_011543769.1:p.Cys1251=
XM_011545468.1:c.3753C>T XP_011543770.1:p.Cys1251=
XM_011545468.2:c.3753C>T XP_011543770.1:p.Cys1251=
XM_011545469.1:c.3753C>T XP_011543771.1:p.Cys1251=
XM_017029328.1:c.3753C>T XP_016884817.1:p.Cys1251=
XM_017029329.1:c.3753C>T XP_016884818.1:p.Cys1251=
XM_017029330.2:c.3753C>T XP_016884819.1:p.Cys1251=