Canonical Allele Identifier: CA386299050

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1480498522
• gnomAD v2: 12-102158621-C-A
• gnomAD v4: 12-101764843-C-A
• MyVariant Identifiers: chr12:g.102158621C>A (hg19) ; chr12:g.101764843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764843C>A , CM000674.2:g.101764843C>A	GRCh38
NC_000012.11:g.102158621C>A , CM000674.1:g.102158621C>A	GRCh37
NC_000012.10:g.100682752C>A	NCBI36
NG_021243.1:g.71025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2074G>T MANE Select	ENSP00000299314.7:p.Glu692Ter
ENST00000299314.11:c.2074G>T	ENSP00000299314.7:p.Glu692Ter
NM_024312.4:c.2074G>T	NP_077288.2:p.Glu692Ter
XM_006719593.2:c.2074G>T	XP_006719656.1:p.Glu692Ter
XM_011538731.1:c.1993G>T	XP_011537033.1:p.Glu665Ter
XM_006719593.3:c.2074G>T	XP_006719656.1:p.Glu692Ter
XM_011538731.2:c.1993G>T	XP_011537033.1:p.Glu665Ter
XM_017019961.1:c.1858G>T	XP_016875450.1:p.Glu620Ter
XM_017019962.2:c.847G>T	XP_016875451.1:p.Glu283Ter
NM_024312.5:c.2074G>T MANE Select	NP_077288.2:p.Glu692Ter