Canonical Allele Identifier: CA285538
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 94487
dbSNP Id: rs34563188
gnomAD v2: X-32563447-G-A
gnomAD v3: X-32545330-G-A
gnomAD v4: X-32545330-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32545330G>A , CM000685.2:g.32545330G>A GRCh38
NC_000023.10:g.32563447G>A , CM000685.1:g.32563447G>A GRCh37
NC_000023.9:g.32473368G>A NCBI36
NG_012232.1:g.799280C>T , LRG_199:g.799280C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682899.1:n.2204C>T
ENST00000683985.1:n.2204C>T
ENST00000288447.9:c.1973C>T ENSP00000288447.4:p.Ser658Leu
ENST00000357033.9:c.1997C>T MANE Select ENSP00000354923.3:p.Ser666Leu
ENST00000288447.8:c.1973C>T ENSP00000288447.4:p.Ser658Leu
ENST00000357033.8:c.1997C>T ENSP00000354923.3:p.Ser666Leu
ENST00000378677.6:c.1985C>T ENSP00000367948.2:p.Ser662Leu
ENST00000420596.5:c.94-180131C>T ENSP00000399897.1:n.94-180131C>T
ENST00000448370.5:c.94-180620C>T ENSP00000388559.1:n.94-180620C>T
ENST00000488902.5:n.336-328267C>T
ENST00000619831.4:c.1985C>T ENSP00000479270.1:p.Ser662Leu
ENST00000620040.4:c.1997C>T ENSP00000478150.1:p.Ser666Leu
NM_000109.3:c.1973C>T NP_000100.2:p.Ser658Leu
NM_004006.2:c.1997C>T , LRG_199t1:c.1997C>T NP_003997.1:p.Ser666Leu
NM_004009.3:c.1985C>T NP_004000.1:p.Ser662Leu
NM_004010.3:c.1628C>T NP_004001.1:p.Ser543Leu
XM_006724468.2:c.1997C>T XP_006724531.1:p.Ser666Leu
XM_006724469.2:c.1973C>T XP_006724532.1:p.Ser658Leu
XM_006724470.2:c.1997C>T XP_006724533.1:p.Ser666Leu
XM_006724471.2:c.1997C>T XP_006724534.1:p.Ser666Leu
XM_006724472.2:c.1868C>T XP_006724535.1:p.Ser623Leu
XM_006724473.2:c.1997C>T XP_006724536.1:p.Ser666Leu
XM_006724474.2:c.1997C>T XP_006724537.1:p.Ser666Leu
XM_006724475.2:c.1997C>T XP_006724538.1:p.Ser666Leu
XM_011545467.1:c.1997C>T XP_011543769.1:p.Ser666Leu
XM_011545468.1:c.1997C>T XP_011543770.1:p.Ser666Leu
XM_011545469.1:c.1997C>T XP_011543771.1:p.Ser666Leu
XM_006724469.3:c.1973C>T XP_006724532.1:p.Ser658Leu
XM_006724470.3:c.1997C>T XP_006724533.1:p.Ser666Leu
XM_006724474.3:c.1997C>T XP_006724537.1:p.Ser666Leu
XM_011545468.2:c.1997C>T XP_011543770.1:p.Ser666Leu
XM_017029328.1:c.1997C>T XP_016884817.1:p.Ser666Leu
XM_017029329.1:c.1997C>T XP_016884818.1:p.Ser666Leu
XM_017029330.2:c.1997C>T XP_016884819.1:p.Ser666Leu
NM_000109.4:c.1973C>T NP_000100.3:p.Ser658Leu
NM_004006.3:c.1997C>T MANE Select NP_003997.2:p.Ser666Leu