Canonical Allele Identifier: CA133643304

Gene: GMDS

Linked Data

• dbSNP Id: rs757688751
• gnomAD v2: 6-1918173-C-G
• gnomAD v3: 6-1917939-C-G
• gnomAD v4: 6-1917939-C-G
• MyVariant Identifiers: chr6:g.1918173C>G (hg19) ; chr6:g.1917939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1917939C>G , CM000668.2:g.1917939C>G	GRCh38
NC_000006.11:g.1918173C>G , CM000668.1:g.1918173C>G	GRCh37
NC_000006.10:g.1863172C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380815.5:c.771+12164G>C MANE Select	ENSP00000370194.4:n.771+12164G>C
ENST00000380805.6:n.897+12164G>C
ENST00000380815.4:c.771+12164G>C	ENSP00000370194.4:n.771+12164G>C
ENST00000530927.5:c.681+12164G>C	ENSP00000436726.1:n.681+12164G>C
ENST00000531690.5:n.250+12164G>C
NM_001253846.1:c.681+12164G>C	NP_001240775.1:n.681+12164G>C
NM_001500.3:c.771+12164G>C	NP_001491.1:n.771+12164G>C
XM_006715066.1:c.772-7952G>C	XP_006715129.1:n.772-7952G>C
XM_011514500.1:c.681+12164G>C	XP_011512802.1:n.681+12164G>C
XM_011514501.1:c.771+12164G>C	XP_011512803.1:n.771+12164G>C
XM_011514502.1:c.771+12164G>C	XP_011512804.1:n.771+12164G>C
XM_011514507.1:c.643+41928G>C	XP_011512809.1:n.643+41928G>C
XM_006715066.3:c.772-7952G>C	XP_006715129.1:n.772-7952G>C
XM_011514502.3:c.771+12164G>C	XP_011512804.1:n.771+12164G>C
XM_011514507.2:c.643+41928G>C	XP_011512809.1:n.643+41928G>C
XM_017010752.1:c.510+12164G>C	XP_016866241.1:n.510+12164G>C
XR_001743349.2:n.954+12164G>C
XR_001743350.2:n.955-7952G>C
NM_001500.4:c.771+12164G>C MANE Select	NP_001491.1:n.771+12164G>C
NM_001253846.2:c.681+12164G>C	NP_001240775.1:n.681+12164G>C