Canonical Allele Identifier: CA362631387

Gene: GMDS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.2117541G>A , CM000668.2:g.2117541G>A	GRCh38
NC_000006.11:g.2117775G>A , CM000668.1:g.2117775G>A	GRCh37
NC_000006.10:g.2062774G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001500.4:c.163C>T MANE Select	NP_001491.1:p.Arg55Trp
ENST00000380815.5:c.163C>T MANE Select	ENSP00000370194.4:p.Arg55Trp
NM_001253846.1:c.73C>T	NP_001240775.1:p.Arg25Trp
NM_001253846.2:c.73C>T	NP_001240775.1:p.Arg25Trp
NM_001500.3:c.163C>T	NP_001491.1:p.Arg55Trp
ENST00000380815.4:c.163C>T	ENSP00000370194.4:p.Arg55Trp
ENST00000530927.5:c.73C>T	ENSP00000436726.1:p.Arg25Trp
XM_006715066.1:c.163C>T	XP_006715129.1:p.Arg55Trp
XM_006715066.3:c.163C>T	XP_006715129.1:p.Arg55Trp
XM_011514500.1:c.73C>T	XP_011512802.1:p.Arg25Trp
XM_011514501.1:c.163C>T	XP_011512803.1:p.Arg55Trp
XM_011514502.1:c.163C>T	XP_011512804.1:p.Arg55Trp
XM_011514502.3:c.163C>T	XP_011512804.1:p.Arg55Trp
XM_011514503.1:c.163C>T	XP_011512805.1:p.Arg55Trp
XM_011514503.3:c.163C>T	XP_011512805.1:p.Arg55Trp
XM_011514504.1:c.163C>T	XP_011512806.1:p.Arg55Trp
XM_011514505.1:c.163C>T	XP_011512807.1:p.Arg55Trp
XM_011514505.2:c.163C>T	XP_011512807.1:p.Arg55Trp
XM_011514506.1:c.163C>T	XP_011512808.1:p.Arg55Trp
XM_011514506.2:c.163C>T	XP_011512808.1:p.Arg55Trp
XM_011514507.1:c.163C>T	XP_011512809.1:p.Arg55Trp
XM_011514507.2:c.163C>T	XP_011512809.1:p.Arg55Trp
XR_001743349.2:n.346C>T
XR_001743350.2:n.346C>T