Canonical Allele Identifier: CA343407
Gene: GNPTAB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 39081
ClinVar RCV Id: RCV000032348
dbSNP Id: rs281864947

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830632G>T , CM000674.2:g.101830632G>T GRCh38
NC_000012.11:g.102224410G>T , CM000674.1:g.102224410G>T GRCh37
NC_000012.10:g.100748541G>T NCBI36
NG_021243.1:g.5236C>A

Transcript Alleles

HGVS Amino-acid change
NM_024312.4:c.44C>A VV NP_077288.2:p.Ser15Tyr
XM_006719593.2:c.44C>A XP_006719656.1:p.Ser15Tyr
XM_006719593.3:c.44C>A XP_006719656.1:p.Ser15Tyr
XM_017019961.1:c.-106C>A XP_016875450.1:p.=
XM_017019962.2:c.-1307C>A XP_016875451.1:p.=
NM_024312.5:c.44C>A VV MANE Preferred NP_077288.2:p.Ser15Tyr
ENST00000299314.11:c.44C>A ENSP00000299314.7:p.Ser15Tyr
ENST00000392919.4:c.44C>A ENSP00000376651.4:p.Ser15Tyr
ENST00000549165.1:c.44C>A ENSP00000450413.1:p.Ser15Tyr
ENST00000549940.5:c.44C>A ENSP00000449150.1:p.Ser15Tyr