Canonical Allele Identifier: CA386292553

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147252A>G (hg19) ; chr12:g.101753474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753474A>G , CM000674.2:g.101753474A>G	GRCh38
NC_000012.11:g.102147252A>G , CM000674.1:g.102147252A>G	GRCh37
NC_000012.10:g.100671383A>G	NCBI36
NG_021243.1:g.82394T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3500T>C MANE Select	ENSP00000299314.7:p.Val1167Ala
ENST00000299314.11:c.3500T>C	ENSP00000299314.7:p.Val1167Ala
ENST00000549738.5:c.398T>C	ENSP00000450161.1:n.398T>C
NM_024312.4:c.3500T>C	NP_077288.2:p.Val1167Ala
XM_011538731.1:c.3419T>C	XP_011537033.1:p.Val1140Ala
XM_011538731.2:c.3419T>C	XP_011537033.1:p.Val1140Ala
XM_017019961.1:c.3284T>C	XP_016875450.1:p.Val1095Ala
XM_017019962.2:c.2273T>C	XP_016875451.1:p.Val758Ala
NM_024312.5:c.3500T>C MANE Select	NP_077288.2:p.Val1167Ala