Canonical Allele Identifier: CA356543
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 50891
ClinVar RCV Id: RCV001852912
dbSNP Id: rs138390866

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761615G>A , CM000674.2:g.101761615G>A GRCh38
NC_000012.11:g.102155393G>A , CM000674.1:g.102155393G>A GRCh37
NC_000012.10:g.100679524G>A NCBI36
NG_021243.1:g.74253C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2864C>T MANE Select ENSP00000299314.7:p.Ala955Val
ENST00000299314.11:c.2864C>T ENSP00000299314.7:p.Ala955Val
NM_024312.4:c.2864C>T NP_077288.2:p.Ala955Val
XM_006719593.2:c.2864C>T XP_006719656.1:p.Ala955Val
XM_011538731.1:c.2783C>T XP_011537033.1:p.Ala928Val
XM_006719593.3:c.2864C>T XP_006719656.1:p.Ala955Val
XM_011538731.2:c.2783C>T XP_011537033.1:p.Ala928Val
XM_017019961.1:c.2648C>T XP_016875450.1:p.Ala883Val
XM_017019962.2:c.1637C>T XP_016875451.1:p.Ala546Val
NM_024312.5:c.2864C>T MANE Select NP_077288.2:p.Ala955Val