Canonical Allele Identifier: CA386292701

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147278A>T (hg19) ; chr12:g.101753500A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753500A>T , CM000674.2:g.101753500A>T	GRCh38
NC_000012.11:g.102147278A>T , CM000674.1:g.102147278A>T	GRCh37
NC_000012.10:g.100671409A>T	NCBI36
NG_021243.1:g.82368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3474T>A MANE Select	ENSP00000299314.7:p.His1158Gln
ENST00000299314.11:c.3474T>A	ENSP00000299314.7:p.His1158Gln
ENST00000549738.5:c.372T>A	ENSP00000450161.1:n.372T>A
NM_024312.4:c.3474T>A	NP_077288.2:p.His1158Gln
XM_011538731.1:c.3393T>A	XP_011537033.1:p.His1131Gln
XM_011538731.2:c.3393T>A	XP_011537033.1:p.His1131Gln
XM_017019961.1:c.3258T>A	XP_016875450.1:p.His1086Gln
XM_017019962.2:c.2247T>A	XP_016875451.1:p.His749Gln
NM_024312.5:c.3474T>A MANE Select	NP_077288.2:p.His1158Gln