Canonical Allele Identifier: CA6746863

Gene: GNPTAB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.533C>G MANE Select	ENSP00000299314.7:p.Thr178Ser
ENST00000299314.11:c.533C>G	ENSP00000299314.7:p.Thr178Ser
ENST00000549940.5:c.533C>G	ENSP00000449150.1:p.Thr178Ser
ENST00000550352.1:n.327C>G
ENST00000552681.1:c.167C>G	ENSP00000449217.1:p.Thr56Ser
NM_024312.4:c.533C>G	NP_077288.2:p.Thr178Ser
XM_006719593.2:c.533C>G	XP_006719656.1:p.Thr178Ser
XM_011538731.1:c.452C>G	XP_011537033.1:p.Thr151Ser
XM_006719593.3:c.533C>G	XP_006719656.1:p.Thr178Ser
XM_011538731.2:c.452C>G	XP_011537033.1:p.Thr151Ser
XM_017019961.1:c.317C>G	XP_016875450.1:p.Thr106Ser
XM_017019962.2:c.-818C>G	XP_016875451.1:n.-818C>G
NM_024312.5:c.533C>G MANE Select	NP_077288.2:p.Thr178Ser