Canonical Allele Identifier: CA412673603
Community Standard Title: NM_004006.3(DMD):c.2353C>T (p.Gln785Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32501782G>A , CM000685.2:g.32501782G>A GRCh38
NC_000023.10:g.32519899G>A , CM000685.1:g.32519899G>A GRCh37
NC_000023.9:g.32429820G>A NCBI36
NG_012232.1:g.842828C>T , LRG_199:g.842828C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.2353C>T MANE Select NP_003997.2:p.Gln785Ter
ENST00000357033.9:c.2353C>T MANE Select ENSP00000354923.3:p.Gln785Ter
NM_000109.3:c.2329C>T NP_000100.2:p.Gln777Ter
NM_000109.4:c.2329C>T NP_000100.3:p.Gln777Ter
NM_004006.2:c.2353C>T , LRG_199t1:c.2353C>T NP_003997.1:p.Gln785Ter
NM_004009.3:c.2341C>T NP_004000.1:p.Gln781Ter
NM_004010.3:c.1984C>T NP_004001.1:p.Gln662Ter
ENST00000357033.8:c.2353C>T ENSP00000354923.3:p.Gln785Ter
ENST00000378677.6:c.2341C>T ENSP00000367948.2:p.Gln781Ter
ENST00000420596.5:c.94-136583C>T ENSP00000399897.1:n.94-136583C>T
ENST00000448370.5:c.94-137072C>T ENSP00000388559.1:n.94-137072C>T
ENST00000488902.5:n.336-284719C>T
ENST00000619831.4:c.2341C>T ENSP00000479270.1:p.Gln781Ter
ENST00000620040.4:c.2353C>T ENSP00000478150.1:p.Gln785Ter
ENST00000682899.1:n.2560C>T
ENST00000683985.1:n.2560C>T
XM_006724468.2:c.2353C>T XP_006724531.1:p.Gln785Ter
XM_006724469.2:c.2329C>T XP_006724532.1:p.Gln777Ter
XM_006724469.3:c.2329C>T XP_006724532.1:p.Gln777Ter
XM_006724470.2:c.2353C>T XP_006724533.1:p.Gln785Ter
XM_006724470.3:c.2353C>T XP_006724533.1:p.Gln785Ter
XM_006724471.2:c.2353C>T XP_006724534.1:p.Gln785Ter
XM_006724472.2:c.2224C>T XP_006724535.1:p.Gln742Ter
XM_006724473.2:c.2353C>T XP_006724536.1:p.Gln785Ter
XM_006724474.2:c.2353C>T XP_006724537.1:p.Gln785Ter
XM_006724474.3:c.2353C>T XP_006724537.1:p.Gln785Ter
XM_006724475.2:c.2353C>T XP_006724538.1:p.Gln785Ter
XM_011545467.1:c.2353C>T XP_011543769.1:p.Gln785Ter
XM_011545468.1:c.2353C>T XP_011543770.1:p.Gln785Ter
XM_011545468.2:c.2353C>T XP_011543770.1:p.Gln785Ter
XM_011545469.1:c.2353C>T XP_011543771.1:p.Gln785Ter
XM_017029328.1:c.2353C>T XP_016884817.1:p.Gln785Ter
XM_017029329.1:c.2353C>T XP_016884818.1:p.Gln785Ter
XM_017029330.2:c.2353C>T XP_016884819.1:p.Gln785Ter