Canonical Allele Identifier: CA386304831

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 984349
• ClinVar RCV Id: RCV001264359
• dbSNP Id: rs756660023
• MyVariant Identifiers: chr12:g.102179819G>C (hg19) ; chr12:g.101786041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786041G>C , CM000674.2:g.101786041G>C	GRCh38
NC_000012.11:g.102179819G>C , CM000674.1:g.102179819G>C	GRCh37
NC_000012.10:g.100703950G>C	NCBI36
NG_021243.1:g.49827C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.542C>G MANE Select	ENSP00000299314.7:p.Ser181Ter
ENST00000299314.11:c.542C>G	ENSP00000299314.7:p.Ser181Ter
ENST00000549940.5:c.542C>G	ENSP00000449150.1:p.Ser181Ter
ENST00000550352.1:n.336C>G
ENST00000552681.1:c.176C>G	ENSP00000449217.1:p.Ser59Ter
NM_024312.4:c.542C>G	NP_077288.2:p.Ser181Ter
XM_006719593.2:c.542C>G	XP_006719656.1:p.Ser181Ter
XM_011538731.1:c.461C>G	XP_011537033.1:p.Ser154Ter
XM_006719593.3:c.542C>G	XP_006719656.1:p.Ser181Ter
XM_011538731.2:c.461C>G	XP_011537033.1:p.Ser154Ter
XM_017019961.1:c.326C>G	XP_016875450.1:p.Ser109Ter
XM_017019962.2:c.-809C>G	XP_016875451.1:n.-809C>G
NM_024312.5:c.542C>G MANE Select	NP_077288.2:p.Ser181Ter