Canonical Allele Identifier: CA6746864

Gene: GNPTAB

Linked Data

• dbSNP Id: rs139021858
• ExAC: 12:102179828 G / A
• gnomAD v2: 12-102179828-G-A
• gnomAD v4: 12-101786050-G-A
• MyVariant Identifiers: chr12:g.102179828G>A (hg19) ; chr12:g.101786050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786050G>A , CM000674.2:g.101786050G>A	GRCh38
NC_000012.11:g.102179828G>A , CM000674.1:g.102179828G>A	GRCh37
NC_000012.10:g.100703959G>A	NCBI36
NG_021243.1:g.49818C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.533C>T MANE Select	ENSP00000299314.7:p.Thr178Ile
ENST00000299314.11:c.533C>T	ENSP00000299314.7:p.Thr178Ile
ENST00000549940.5:c.533C>T	ENSP00000449150.1:p.Thr178Ile
ENST00000550352.1:n.327C>T
ENST00000552681.1:c.167C>T	ENSP00000449217.1:p.Thr56Ile
NM_024312.4:c.533C>T	NP_077288.2:p.Thr178Ile
XM_006719593.2:c.533C>T	XP_006719656.1:p.Thr178Ile
XM_011538731.1:c.452C>T	XP_011537033.1:p.Thr151Ile
XM_006719593.3:c.533C>T	XP_006719656.1:p.Thr178Ile
XM_011538731.2:c.452C>T	XP_011537033.1:p.Thr151Ile
XM_017019961.1:c.317C>T	XP_016875450.1:p.Thr106Ile
XM_017019962.2:c.-818C>T	XP_016875451.1:n.-818C>T
NM_024312.5:c.533C>T MANE Select	NP_077288.2:p.Thr178Ile