Canonical Allele Identifier: CA481317667

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1116032
• ClinVar RCV Id: RCV001444256
• dbSNP Id: rs2137102067
• MyVariant Identifiers: chr12:g.102147251A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753473A>G , CM000674.2:g.101753473A>G	GRCh38
NC_000012.11:g.102147251A>G , CM000674.1:g.102147251A>G	GRCh37
NC_000012.10:g.100671382A>G	NCBI36
NG_021243.1:g.82395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3501T>C MANE Select	ENSP00000299314.7:p.Val1167=
ENST00000299314.11:c.3501T>C	ENSP00000299314.7:p.Val1167=
ENST00000549738.5:c.399T>C	ENSP00000450161.1:n.399T>C
NM_024312.4:c.3501T>C	NP_077288.2:p.Val1167=
XM_011538731.1:c.3420T>C	XP_011537033.1:p.Val1140=
XM_011538731.2:c.3420T>C	XP_011537033.1:p.Val1140=
XM_017019961.1:c.3285T>C	XP_016875450.1:p.Val1095=
XM_017019962.2:c.2274T>C	XP_016875451.1:p.Val758=
NM_024312.5:c.3501T>C MANE Select	NP_077288.2:p.Val1167=