Canonical Allele Identifier: CA356554
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs281864958

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786038A>T , CM000674.2:g.101786038A>T GRCh38
NC_000012.11:g.102179816A>T , CM000674.1:g.102179816A>T GRCh37
NC_000012.10:g.100703947A>T NCBI36
NG_021243.1:g.49830T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.545T>A MANE Select ENSP00000299314.7:p.Val182Asp
ENST00000299314.11:c.545T>A ENSP00000299314.7:p.Val182Asp
ENST00000549940.5:c.545T>A ENSP00000449150.1:p.Val182Asp
ENST00000550352.1:n.339T>A
ENST00000552681.1:c.179T>A ENSP00000449217.1:p.Val60Asp
NM_024312.4:c.545T>A NP_077288.2:p.Val182Asp
XM_006719593.2:c.545T>A XP_006719656.1:p.Val182Asp
XM_011538731.1:c.464T>A XP_011537033.1:p.Val155Asp
XM_006719593.3:c.545T>A XP_006719656.1:p.Val182Asp
XM_011538731.2:c.464T>A XP_011537033.1:p.Val155Asp
XM_017019961.1:c.329T>A XP_016875450.1:p.Val110Asp
XM_017019962.2:c.-806T>A XP_016875451.1:n.-806T>A
NM_024312.5:c.545T>A MANE Select NP_077288.2:p.Val182Asp