Canonical Allele Identifier: CA1605964363

Gene: GMDS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1918013G= , CM000668.2:g.1918013G=	GRCh38
NC_000006.11:g.1918247G= , CM000668.1:g.1918247G=	GRCh37
NC_000006.10:g.1863246G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380815.5:c.771+12090C= MANE Select	ENSP00000370194.4:n.771+12090C=
ENST00000380805.6:n.897+12090C=
ENST00000380815.4:c.771+12090C=	ENSP00000370194.4:n.771+12090C=
ENST00000530927.5:c.681+12090C=	ENSP00000436726.1:n.681+12090C=
ENST00000531690.5:n.250+12090C=
NM_001253846.1:c.681+12090C=	NP_001240775.1:n.681+12090C=
NM_001500.3:c.771+12090C=	NP_001491.1:n.771+12090C=
XM_006715066.1:c.772-8026C=	XP_006715129.1:n.772-8026C=
XM_011514500.1:c.681+12090C=	XP_011512802.1:n.681+12090C=
XM_011514501.1:c.771+12090C=	XP_011512803.1:n.771+12090C=
XM_011514502.1:c.771+12090C=	XP_011512804.1:n.771+12090C=
XM_011514507.1:c.643+41854C=	XP_011512809.1:n.643+41854C=
XM_006715066.3:c.772-8026C=	XP_006715129.1:n.772-8026C=
XM_011514502.3:c.771+12090C=	XP_011512804.1:n.771+12090C=
XM_011514507.2:c.643+41854C=	XP_011512809.1:n.643+41854C=
XM_017010752.1:c.510+12090C=	XP_016866241.1:n.510+12090C=
XR_001743349.2:n.954+12090C=
XR_001743350.2:n.955-8026C=
NM_001500.4:c.771+12090C= MANE Select	NP_001491.1:n.771+12090C=
NM_001253846.2:c.681+12090C=	NP_001240775.1:n.681+12090C=