Canonical Allele Identifier: CA386304940

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1566085509
• gnomAD v4: 12-101786092-G-A
• MyVariant Identifiers: chr12:g.102179870G>A (hg19) ; chr12:g.101786092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786092G>A , CM000674.2:g.101786092G>A	GRCh38
NC_000012.11:g.102179870G>A , CM000674.1:g.102179870G>A	GRCh37
NC_000012.10:g.100704001G>A	NCBI36
NG_021243.1:g.49776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.491C>T MANE Select	ENSP00000299314.7:p.Ala164Val
ENST00000299314.11:c.491C>T	ENSP00000299314.7:p.Ala164Val
ENST00000549940.5:c.491C>T	ENSP00000449150.1:p.Ala164Val
ENST00000550352.1:n.285C>T
ENST00000552681.1:c.125C>T	ENSP00000449217.1:p.Ala42Val
NM_024312.4:c.491C>T	NP_077288.2:p.Ala164Val
XM_006719593.2:c.491C>T	XP_006719656.1:p.Ala164Val
XM_011538731.1:c.410C>T	XP_011537033.1:p.Ala137Val
XM_006719593.3:c.491C>T	XP_006719656.1:p.Ala164Val
XM_011538731.2:c.410C>T	XP_011537033.1:p.Ala137Val
XM_017019961.1:c.275C>T	XP_016875450.1:p.Ala92Val
XM_017019962.2:c.-860C>T	XP_016875451.1:n.-860C>T
NM_024312.5:c.491C>T MANE Select	NP_077288.2:p.Ala164Val