Canonical Allele Identifier: CA3614981

Gene: GMDS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1624201C>T , CM000668.2:g.1624201C>T	GRCh38
NC_000006.11:g.1624436C>T , CM000668.1:g.1624436C>T	GRCh37
NC_000006.10:g.1569435C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001500.4:c.1087G>A MANE Select	NP_001491.1:p.Val363Met
ENST00000380815.5:c.1087G>A MANE Select	ENSP00000370194.4:p.Val363Met
NM_001253846.1:c.997G>A	NP_001240775.1:p.Val333Met
NM_001253846.2:c.997G>A	NP_001240775.1:p.Val333Met
NM_001500.3:c.1087G>A	NP_001491.1:p.Val363Met
ENST00000380805.6:n.1349G>A
ENST00000380815.4:c.1087G>A	ENSP00000370194.4:p.Val363Met
ENST00000467288.6:n.505G>A
ENST00000476972.6:n.196G>A
ENST00000486793.5:n.172G>A
ENST00000530927.5:c.997G>A	ENSP00000436726.1:p.Val333Met
XM_011514500.1:c.997G>A	XP_011512802.1:p.Val333Met
XM_017010752.1:c.826G>A	XP_016866241.1:p.Val276Met
XR_001743349.2:n.1406G>A