Canonical Allele Identifier: CA1605964341
Gene: GMDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1917959T= , CM000668.2:g.1917959T= GRCh38
NC_000006.11:g.1918193T= , CM000668.1:g.1918193T= GRCh37
NC_000006.10:g.1863192T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380815.5:c.771+12144A= MANE Select ENSP00000370194.4:n.771+12144A=
ENST00000380805.6:n.897+12144A=
ENST00000380815.4:c.771+12144A= ENSP00000370194.4:n.771+12144A=
ENST00000530927.5:c.681+12144A= ENSP00000436726.1:n.681+12144A=
ENST00000531690.5:n.250+12144A=
NM_001253846.1:c.681+12144A= NP_001240775.1:n.681+12144A=
NM_001500.3:c.771+12144A= NP_001491.1:n.771+12144A=
XM_006715066.1:c.772-7972A= XP_006715129.1:n.772-7972A=
XM_011514500.1:c.681+12144A= XP_011512802.1:n.681+12144A=
XM_011514501.1:c.771+12144A= XP_011512803.1:n.771+12144A=
XM_011514502.1:c.771+12144A= XP_011512804.1:n.771+12144A=
XM_011514507.1:c.643+41908A= XP_011512809.1:n.643+41908A=
XM_006715066.3:c.772-7972A= XP_006715129.1:n.772-7972A=
XM_011514502.3:c.771+12144A= XP_011512804.1:n.771+12144A=
XM_011514507.2:c.643+41908A= XP_011512809.1:n.643+41908A=
XM_017010752.1:c.510+12144A= XP_016866241.1:n.510+12144A=
XR_001743349.2:n.954+12144A=
XR_001743350.2:n.955-7972A=
NM_001500.4:c.771+12144A= MANE Select NP_001491.1:n.771+12144A=
NM_001253846.2:c.681+12144A= NP_001240775.1:n.681+12144A=