Canonical Allele Identifier: CA386292562

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101753475-C-T
• MyVariant Identifiers: chr12:g.102147253C>T (hg19) ; chr12:g.101753475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753475C>T , CM000674.2:g.101753475C>T	GRCh38
NC_000012.11:g.102147253C>T , CM000674.1:g.102147253C>T	GRCh37
NC_000012.10:g.100671384C>T	NCBI36
NG_021243.1:g.82393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3499G>A MANE Select	ENSP00000299314.7:p.Val1167Ile
ENST00000299314.11:c.3499G>A	ENSP00000299314.7:p.Val1167Ile
ENST00000549738.5:c.397G>A	ENSP00000450161.1:n.397G>A
NM_024312.4:c.3499G>A	NP_077288.2:p.Val1167Ile
XM_011538731.1:c.3418G>A	XP_011537033.1:p.Val1140Ile
XM_011538731.2:c.3418G>A	XP_011537033.1:p.Val1140Ile
XM_017019961.1:c.3283G>A	XP_016875450.1:p.Val1095Ile
XM_017019962.2:c.2272G>A	XP_016875451.1:p.Val758Ile
NM_024312.5:c.3499G>A MANE Select	NP_077288.2:p.Val1167Ile