Canonical Allele Identifier: CA133643312

Gene: GMDS

Linked Data

• dbSNP Id: rs1010484294
• gnomAD v3: 6-1918005-T-C
• gnomAD v4: 6-1918005-T-C
• MyVariant Identifiers: chr6:g.1918239T>C (hg19) ; chr6:g.1918005T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1918005T>C , CM000668.2:g.1918005T>C	GRCh38
NC_000006.11:g.1918239T>C , CM000668.1:g.1918239T>C	GRCh37
NC_000006.10:g.1863238T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380815.5:c.771+12098A>G MANE Select	ENSP00000370194.4:n.771+12098A>G
ENST00000380805.6:n.897+12098A>G
ENST00000380815.4:c.771+12098A>G	ENSP00000370194.4:n.771+12098A>G
ENST00000530927.5:c.681+12098A>G	ENSP00000436726.1:n.681+12098A>G
ENST00000531690.5:n.250+12098A>G
NM_001253846.1:c.681+12098A>G	NP_001240775.1:n.681+12098A>G
NM_001500.3:c.771+12098A>G	NP_001491.1:n.771+12098A>G
XM_006715066.1:c.772-8018A>G	XP_006715129.1:n.772-8018A>G
XM_011514500.1:c.681+12098A>G	XP_011512802.1:n.681+12098A>G
XM_011514501.1:c.771+12098A>G	XP_011512803.1:n.771+12098A>G
XM_011514502.1:c.771+12098A>G	XP_011512804.1:n.771+12098A>G
XM_011514507.1:c.643+41862A>G	XP_011512809.1:n.643+41862A>G
XM_006715066.3:c.772-8018A>G	XP_006715129.1:n.772-8018A>G
XM_011514502.3:c.771+12098A>G	XP_011512804.1:n.771+12098A>G
XM_011514507.2:c.643+41862A>G	XP_011512809.1:n.643+41862A>G
XM_017010752.1:c.510+12098A>G	XP_016866241.1:n.510+12098A>G
XR_001743349.2:n.954+12098A>G
XR_001743350.2:n.955-8018A>G
NM_001500.4:c.771+12098A>G MANE Select	NP_001491.1:n.771+12098A>G
NM_001253846.2:c.681+12098A>G	NP_001240775.1:n.681+12098A>G