Canonical Allele Identifier: CA386292574

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147256C>T (hg19) ; chr12:g.101753478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753478C>T , CM000674.2:g.101753478C>T	GRCh38
NC_000012.11:g.102147256C>T , CM000674.1:g.102147256C>T	GRCh37
NC_000012.10:g.100671387C>T	NCBI36
NG_021243.1:g.82390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3496G>A MANE Select	ENSP00000299314.7:p.Ala1166Thr
ENST00000299314.11:c.3496G>A	ENSP00000299314.7:p.Ala1166Thr
ENST00000549738.5:c.394G>A	ENSP00000450161.1:n.394G>A
NM_024312.4:c.3496G>A	NP_077288.2:p.Ala1166Thr
XM_011538731.1:c.3415G>A	XP_011537033.1:p.Ala1139Thr
XM_011538731.2:c.3415G>A	XP_011537033.1:p.Ala1139Thr
XM_017019961.1:c.3280G>A	XP_016875450.1:p.Ala1094Thr
XM_017019962.2:c.2269G>A	XP_016875451.1:p.Ala757Thr
NM_024312.5:c.3496G>A MANE Select	NP_077288.2:p.Ala1166Thr