Canonical Allele Identifier: CA16609422
Gene: GNPTAB HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'