Canonical Allele Identifier: CA1605964369
Gene: GMDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1918025T= , CM000668.2:g.1918025T= GRCh38
NC_000006.11:g.1918259T= , CM000668.1:g.1918259T= GRCh37
NC_000006.10:g.1863258T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380815.5:c.771+12078A= MANE Select ENSP00000370194.4:n.771+12078A=
ENST00000380805.6:n.897+12078A=
ENST00000380815.4:c.771+12078A= ENSP00000370194.4:n.771+12078A=
ENST00000530927.5:c.681+12078A= ENSP00000436726.1:n.681+12078A=
ENST00000531690.5:n.250+12078A=
NM_001253846.1:c.681+12078A= NP_001240775.1:n.681+12078A=
NM_001500.3:c.771+12078A= NP_001491.1:n.771+12078A=
XM_006715066.1:c.772-8038A= XP_006715129.1:n.772-8038A=
XM_011514500.1:c.681+12078A= XP_011512802.1:n.681+12078A=
XM_011514501.1:c.771+12078A= XP_011512803.1:n.771+12078A=
XM_011514502.1:c.771+12078A= XP_011512804.1:n.771+12078A=
XM_011514507.1:c.643+41842A= XP_011512809.1:n.643+41842A=
XM_006715066.3:c.772-8038A= XP_006715129.1:n.772-8038A=
XM_011514502.3:c.771+12078A= XP_011512804.1:n.771+12078A=
XM_011514507.2:c.643+41842A= XP_011512809.1:n.643+41842A=
XM_017010752.1:c.510+12078A= XP_016866241.1:n.510+12078A=
XR_001743349.2:n.954+12078A=
XR_001743350.2:n.955-8038A=
NM_001500.4:c.771+12078A= MANE Select NP_001491.1:n.771+12078A=
NM_001253846.2:c.681+12078A= NP_001240775.1:n.681+12078A=