Canonical Allele Identifier: CA386305147

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1868636787
• MyVariant Identifiers: chr12:g.102179970T>C (hg19) ; chr12:g.101786192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786192T>C , CM000674.2:g.101786192T>C	GRCh38
NC_000012.11:g.102179970T>C , CM000674.1:g.102179970T>C	GRCh37
NC_000012.10:g.100704101T>C	NCBI36
NG_021243.1:g.49676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.391A>G MANE Select	ENSP00000299314.7:p.Thr131Ala
ENST00000299314.11:c.391A>G	ENSP00000299314.7:p.Thr131Ala
ENST00000549940.5:c.391A>G	ENSP00000449150.1:p.Thr131Ala
ENST00000550352.1:n.185A>G
ENST00000552681.1:c.25A>G	ENSP00000449217.1:p.Thr9Ala
NM_024312.4:c.391A>G	NP_077288.2:p.Thr131Ala
XM_006719593.2:c.391A>G	XP_006719656.1:p.Thr131Ala
XM_011538731.1:c.310A>G	XP_011537033.1:p.Thr104Ala
XM_006719593.3:c.391A>G	XP_006719656.1:p.Thr131Ala
XM_011538731.2:c.310A>G	XP_011537033.1:p.Thr104Ala
XM_017019961.1:c.175A>G	XP_016875450.1:p.Thr59Ala
XM_017019962.2:c.-960A>G	XP_016875451.1:n.-960A>G
NM_024312.5:c.391A>G MANE Select	NP_077288.2:p.Thr131Ala