Canonical Allele Identifier: CA242461255

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1124333
• ClinVar RCV Id: RCV001455685
• dbSNP Id: rs374302256
• gnomAD v4: 12-101768068-T-C
• MyVariant Identifiers: chr12:g.102161846T>C (hg19) ; chr12:g.101768068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768068T>C , CM000674.2:g.101768068T>C	GRCh38
NC_000012.11:g.102161846T>C , CM000674.1:g.102161846T>C	GRCh37
NC_000012.10:g.100685977T>C	NCBI36
NG_021243.1:g.67800A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1377A>G MANE Select	ENSP00000299314.7:p.Ser459=
ENST00000299314.11:c.1377A>G	ENSP00000299314.7:p.Ser459=
ENST00000549940.5:c.1377A>G	ENSP00000449150.1:p.Ser459=
ENST00000552009.1:n.36A>G
NM_024312.4:c.1377A>G	NP_077288.2:p.Ser459=
XM_006719593.2:c.1377A>G	XP_006719656.1:p.Ser459=
XM_011538731.1:c.1296A>G	XP_011537033.1:p.Ser432=
XM_006719593.3:c.1377A>G	XP_006719656.1:p.Ser459=
XM_011538731.2:c.1296A>G	XP_011537033.1:p.Ser432=
XM_017019961.1:c.1161A>G	XP_016875450.1:p.Ser387=
XM_017019962.2:c.150A>G	XP_016875451.1:p.Ser50=
NM_024312.5:c.1377A>G MANE Select	NP_077288.2:p.Ser459=