Canonical Allele Identifier: CA481326294

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1473765596
• MyVariant Identifiers: chr12:g.102179923T>C (hg19) ; chr12:g.101786145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786145T>C , CM000674.2:g.101786145T>C	GRCh38
NC_000012.11:g.102179923T>C , CM000674.1:g.102179923T>C	GRCh37
NC_000012.10:g.100704054T>C	NCBI36
NG_021243.1:g.49723A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.438A>G MANE Select	ENSP00000299314.7:p.Pro146=
ENST00000299314.11:c.438A>G	ENSP00000299314.7:p.Pro146=
ENST00000549940.5:c.438A>G	ENSP00000449150.1:p.Pro146=
ENST00000550352.1:n.232A>G
ENST00000552681.1:c.72A>G	ENSP00000449217.1:p.Pro24=
NM_024312.4:c.438A>G	NP_077288.2:p.Pro146=
XM_006719593.2:c.438A>G	XP_006719656.1:p.Pro146=
XM_011538731.1:c.357A>G	XP_011537033.1:p.Pro119=
XM_006719593.3:c.438A>G	XP_006719656.1:p.Pro146=
XM_011538731.2:c.357A>G	XP_011537033.1:p.Pro119=
XM_017019961.1:c.222A>G	XP_016875450.1:p.Pro74=
XM_017019962.2:c.-913A>G	XP_016875451.1:n.-913A>G
NM_024312.5:c.438A>G MANE Select	NP_077288.2:p.Pro146=