Canonical Allele Identifier: CA2590780939

Gene: GMDS

Linked Data

• dbSNP Id: rs2113896058
• gnomAD v3: 6-1917990-C-A
• gnomAD v4: 6-1917990-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1917990C>A , CM000668.2:g.1917990C>A	GRCh38
NC_000006.11:g.1918224C>A , CM000668.1:g.1918224C>A	GRCh37
NC_000006.10:g.1863223C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380815.5:c.771+12113G>T MANE Select	ENSP00000370194.4:n.771+12113G>T
ENST00000380805.6:n.897+12113G>T
ENST00000380815.4:c.771+12113G>T	ENSP00000370194.4:n.771+12113G>T
ENST00000530927.5:c.681+12113G>T	ENSP00000436726.1:n.681+12113G>T
ENST00000531690.5:n.250+12113G>T
NM_001253846.1:c.681+12113G>T	NP_001240775.1:n.681+12113G>T
NM_001500.3:c.771+12113G>T	NP_001491.1:n.771+12113G>T
XM_006715066.1:c.772-8003G>T	XP_006715129.1:n.772-8003G>T
XM_011514500.1:c.681+12113G>T	XP_011512802.1:n.681+12113G>T
XM_011514501.1:c.771+12113G>T	XP_011512803.1:n.771+12113G>T
XM_011514502.1:c.771+12113G>T	XP_011512804.1:n.771+12113G>T
XM_011514507.1:c.643+41877G>T	XP_011512809.1:n.643+41877G>T
XM_006715066.3:c.772-8003G>T	XP_006715129.1:n.772-8003G>T
XM_011514502.3:c.771+12113G>T	XP_011512804.1:n.771+12113G>T
XM_011514507.2:c.643+41877G>T	XP_011512809.1:n.643+41877G>T
XM_017010752.1:c.510+12113G>T	XP_016866241.1:n.510+12113G>T
XR_001743349.2:n.954+12113G>T
XR_001743350.2:n.955-8003G>T
NM_001500.4:c.771+12113G>T MANE Select	NP_001491.1:n.771+12113G>T
NM_001253846.2:c.681+12113G>T	NP_001240775.1:n.681+12113G>T