Canonical Allele Identifier: CA1605964364
Gene: GMDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1918015C= , CM000668.2:g.1918015C= GRCh38
NC_000006.11:g.1918249C= , CM000668.1:g.1918249C= GRCh37
NC_000006.10:g.1863248C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380815.5:c.771+12088G= MANE Select ENSP00000370194.4:n.771+12088G=
ENST00000380805.6:n.897+12088G=
ENST00000380815.4:c.771+12088G= ENSP00000370194.4:n.771+12088G=
ENST00000530927.5:c.681+12088G= ENSP00000436726.1:n.681+12088G=
ENST00000531690.5:n.250+12088G=
NM_001253846.1:c.681+12088G= NP_001240775.1:n.681+12088G=
NM_001500.3:c.771+12088G= NP_001491.1:n.771+12088G=
XM_006715066.1:c.772-8028G= XP_006715129.1:n.772-8028G=
XM_011514500.1:c.681+12088G= XP_011512802.1:n.681+12088G=
XM_011514501.1:c.771+12088G= XP_011512803.1:n.771+12088G=
XM_011514502.1:c.771+12088G= XP_011512804.1:n.771+12088G=
XM_011514507.1:c.643+41852G= XP_011512809.1:n.643+41852G=
XM_006715066.3:c.772-8028G= XP_006715129.1:n.772-8028G=
XM_011514502.3:c.771+12088G= XP_011512804.1:n.771+12088G=
XM_011514507.2:c.643+41852G= XP_011512809.1:n.643+41852G=
XM_017010752.1:c.510+12088G= XP_016866241.1:n.510+12088G=
XR_001743349.2:n.954+12088G=
XR_001743350.2:n.955-8028G=
NM_001500.4:c.771+12088G= MANE Select NP_001491.1:n.771+12088G=
NM_001253846.2:c.681+12088G= NP_001240775.1:n.681+12088G=