Canonical Allele Identifier: CA242456794

Gene: GNPTAB

Linked Data

• dbSNP Id: rs766665637
• MyVariant Identifiers: chr12:g.102158656C>T (hg19) ; chr12:g.101764878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764878C>T , CM000674.2:g.101764878C>T	GRCh38
NC_000012.11:g.102158656C>T , CM000674.1:g.102158656C>T	GRCh37
NC_000012.10:g.100682787C>T	NCBI36
NG_021243.1:g.70990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2039G>A MANE Select	ENSP00000299314.7:p.Arg680Lys
ENST00000299314.11:c.2039G>A	ENSP00000299314.7:p.Arg680Lys
NM_024312.4:c.2039G>A	NP_077288.2:p.Arg680Lys
XM_006719593.2:c.2039G>A	XP_006719656.1:p.Arg680Lys
XM_011538731.1:c.1958G>A	XP_011537033.1:p.Arg653Lys
XM_006719593.3:c.2039G>A	XP_006719656.1:p.Arg680Lys
XM_011538731.2:c.1958G>A	XP_011537033.1:p.Arg653Lys
XM_017019961.1:c.1823G>A	XP_016875450.1:p.Arg608Lys
XM_017019962.2:c.812G>A	XP_016875451.1:p.Arg271Lys
NM_024312.5:c.2039G>A MANE Select	NP_077288.2:p.Arg680Lys