Canonical Allele Identifier: CA386292134

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147161C>A (hg19) ; chr12:g.101753383C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753383C>A , CM000674.2:g.101753383C>A	GRCh38
NC_000012.11:g.102147161C>A , CM000674.1:g.102147161C>A	GRCh37
NC_000012.10:g.100671292C>A	NCBI36
NG_021243.1:g.82485G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3591G>T MANE Select	ENSP00000299314.7:p.Glu1197Asp
ENST00000299314.11:c.3591G>T	ENSP00000299314.7:p.Glu1197Asp
ENST00000549738.5:c.489G>T	ENSP00000450161.1:n.489G>T
NM_024312.4:c.3591G>T	NP_077288.2:p.Glu1197Asp
XM_011538731.1:c.3510G>T	XP_011537033.1:p.Glu1170Asp
XM_011538731.2:c.3510G>T	XP_011537033.1:p.Glu1170Asp
XM_017019961.1:c.3375G>T	XP_016875450.1:p.Glu1125Asp
XM_017019962.2:c.2364G>T	XP_016875451.1:p.Glu788Asp
NM_024312.5:c.3591G>T MANE Select	NP_077288.2:p.Glu1197Asp