Canonical Allele Identifier: CA6746514
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 855860
dbSNP Id: rs137853823

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101765042G>T , CM000674.2:g.101765042G>T GRCh38
NC_000012.11:g.102158820G>T , CM000674.1:g.102158820G>T GRCh37
NC_000012.10:g.100682951G>T NCBI36
NG_021243.1:g.70826C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.1875C>A MANE Select ENSP00000299314.7:p.Phe625Leu
ENST00000299314.11:c.1875C>A ENSP00000299314.7:p.Phe625Leu
NM_024312.4:c.1875C>A NP_077288.2:p.Phe625Leu
XM_006719593.2:c.1875C>A XP_006719656.1:p.Phe625Leu
XM_011538731.1:c.1794C>A XP_011537033.1:p.Phe598Leu
XM_006719593.3:c.1875C>A XP_006719656.1:p.Phe625Leu
XM_011538731.2:c.1794C>A XP_011537033.1:p.Phe598Leu
XM_017019961.1:c.1659C>A XP_016875450.1:p.Phe553Leu
XM_017019962.2:c.648C>A XP_016875451.1:p.Phe216Leu
NM_024312.5:c.1875C>A MANE Select NP_077288.2:p.Phe625Leu