Canonical Allele Identifier: CA386296353

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1342175646
• gnomAD v3: 12-101761690-G-A
• gnomAD v4: 12-101761690-G-A
• MyVariant Identifiers: chr12:g.102155468G>A (hg19) ; chr12:g.101761690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761690G>A , CM000674.2:g.101761690G>A	GRCh38
NC_000012.11:g.102155468G>A , CM000674.1:g.102155468G>A	GRCh37
NC_000012.10:g.100679599G>A	NCBI36
NG_021243.1:g.74178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2789C>T MANE Select	ENSP00000299314.7:p.Thr930Ile
ENST00000299314.11:c.2789C>T	ENSP00000299314.7:p.Thr930Ile
NM_024312.4:c.2789C>T	NP_077288.2:p.Thr930Ile
XM_006719593.2:c.2789C>T	XP_006719656.1:p.Thr930Ile
XM_011538731.1:c.2708C>T	XP_011537033.1:p.Thr903Ile
XM_006719593.3:c.2789C>T	XP_006719656.1:p.Thr930Ile
XM_011538731.2:c.2708C>T	XP_011537033.1:p.Thr903Ile
XM_017019961.1:c.2573C>T	XP_016875450.1:p.Thr858Ile
XM_017019962.2:c.1562C>T	XP_016875451.1:p.Thr521Ile
NM_024312.5:c.2789C>T MANE Select	NP_077288.2:p.Thr930Ile