Canonical Allele Identifier: CA252415
Gene: GNPTAB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2775
dbSNP Id: rs137852900

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770185A>G , CM000674.2:g.101770185A>G GRCh38
NC_000012.11:g.102163963A>G , CM000674.1:g.102163963A>G GRCh37
NC_000012.10:g.100688094A>G NCBI36
NG_021243.1:g.65683T>C

Transcript Alleles

HGVS Amino-acid change
NM_024312.4:c.1120T>C VV NP_077288.2:p.Phe374Leu
XM_006719593.2:c.1120T>C XP_006719656.1:p.Phe374Leu
XM_011538731.1:c.1039T>C XP_011537033.1:p.Phe347Leu
XM_006719593.3:c.1120T>C
XM_011538731.2:c.1039T>C
XM_017019961.1:c.904T>C XP_016875450.1:p.Phe302Leu
XM_017019962.2:c.-108T>C XP_016875451.1:p.=
NM_024312.5:c.1120T>C VV MANE Preferred
ENST00000299314.11:c.1120T>C ENSP00000299314.7:p.Phe374Leu
ENST00000549940.5:c.1120T>C ENSP00000449150.1:p.Phe374Leu