Canonical Allele Identifier: CA386292138

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952850850
• MyVariant Identifiers: chr12:g.102147162T>G (hg19) ; chr12:g.101753384T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3590A>C MANE Select	ENSP00000299314.7:p.Glu1197Ala
ENST00000299314.11:c.3590A>C	ENSP00000299314.7:p.Glu1197Ala
ENST00000549738.5:c.488A>C	ENSP00000450161.1:n.488A>C
NM_024312.4:c.3590A>C	NP_077288.2:p.Glu1197Ala
XM_011538731.1:c.3509A>C	XP_011537033.1:p.Glu1170Ala
XM_011538731.2:c.3509A>C	XP_011537033.1:p.Glu1170Ala
XM_017019961.1:c.3374A>C	XP_016875450.1:p.Glu1125Ala
XM_017019962.2:c.2363A>C	XP_016875451.1:p.Glu788Ala
NM_024312.5:c.3590A>C MANE Select	NP_077288.2:p.Glu1197Ala