Canonical Allele Identifier: CA386292137

Gene: GNPTAB

Linked Data

• COSMIC: COSM3986573
• MyVariant Identifiers: chr12:g.102147162T>C (hg19) ; chr12:g.101753384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753384T>C , CM000674.2:g.101753384T>C	GRCh38
NC_000012.11:g.102147162T>C , CM000674.1:g.102147162T>C	GRCh37
NC_000012.10:g.100671293T>C	NCBI36
NG_021243.1:g.82484A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3590A>G MANE Select	ENSP00000299314.7:p.Glu1197Gly
ENST00000299314.11:c.3590A>G	ENSP00000299314.7:p.Glu1197Gly
ENST00000549738.5:c.488A>G	ENSP00000450161.1:n.488A>G
NM_024312.4:c.3590A>G	NP_077288.2:p.Glu1197Gly
XM_011538731.1:c.3509A>G	XP_011537033.1:p.Glu1170Gly
XM_011538731.2:c.3509A>G	XP_011537033.1:p.Glu1170Gly
XM_017019961.1:c.3374A>G	XP_016875450.1:p.Glu1125Gly
XM_017019962.2:c.2363A>G	XP_016875451.1:p.Glu788Gly
NM_024312.5:c.3590A>G MANE Select	NP_077288.2:p.Glu1197Gly