Canonical Allele Identifier: CA16609422

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 397573
• ClinVar RCV Id: RCV000449510
• dbSNP Id: rs1060499688
• MyVariant Identifiers: chr12:g.102147177A>G (hg19) ; chr12:g.101753399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753399A>G , CM000674.2:g.101753399A>G	GRCh38
NC_000012.11:g.102147177A>G , CM000674.1:g.102147177A>G	GRCh37
NC_000012.10:g.100671308A>G	NCBI36
NG_021243.1:g.82469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3575T>C MANE Select	ENSP00000299314.7:p.Phe1192Ser
ENST00000299314.11:c.3575T>C	ENSP00000299314.7:p.Phe1192Ser
ENST00000549738.5:c.473T>C	ENSP00000450161.1:n.473T>C
NM_024312.4:c.3575T>C	NP_077288.2:p.Phe1192Ser
XM_011538731.1:c.3494T>C	XP_011537033.1:p.Phe1165Ser
XM_011538731.2:c.3494T>C	XP_011537033.1:p.Phe1165Ser
XM_017019961.1:c.3359T>C	XP_016875450.1:p.Phe1120Ser
XM_017019962.2:c.2348T>C	XP_016875451.1:p.Phe783Ser
NM_024312.5:c.3575T>C MANE Select	NP_077288.2:p.Phe1192Ser