Canonical Allele Identifier: CA386292565

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147255G>T (hg19) ; chr12:g.101753477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753477G>T , CM000674.2:g.101753477G>T	GRCh38
NC_000012.11:g.102147255G>T , CM000674.1:g.102147255G>T	GRCh37
NC_000012.10:g.100671386G>T	NCBI36
NG_021243.1:g.82391C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3497C>A MANE Select	ENSP00000299314.7:p.Ala1166Asp
ENST00000299314.11:c.3497C>A	ENSP00000299314.7:p.Ala1166Asp
ENST00000549738.5:c.395C>A	ENSP00000450161.1:n.395C>A
NM_024312.4:c.3497C>A	NP_077288.2:p.Ala1166Asp
XM_011538731.1:c.3416C>A	XP_011537033.1:p.Ala1139Asp
XM_011538731.2:c.3416C>A	XP_011537033.1:p.Ala1139Asp
XM_017019961.1:c.3281C>A	XP_016875450.1:p.Ala1094Asp
XM_017019962.2:c.2270C>A	XP_016875451.1:p.Ala757Asp
NM_024312.5:c.3497C>A MANE Select	NP_077288.2:p.Ala1166Asp