Canonical Allele Identifier: CA386303215
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1953154815

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770501C>T , CM000674.2:g.101770501C>T GRCh38
NC_000012.11:g.102164279C>T , CM000674.1:g.102164279C>T GRCh37
NC_000012.10:g.100688410C>T NCBI36
NG_021243.1:g.65367G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.1018G>A MANE Select ENSP00000299314.7:p.Ala340Thr
ENST00000299314.11:c.1018G>A ENSP00000299314.7:p.Ala340Thr
ENST00000549940.5:c.1018G>A ENSP00000449150.1:p.Ala340Thr
NM_024312.4:c.1018G>A NP_077288.2:p.Ala340Thr
XM_006719593.2:c.1018G>A XP_006719656.1:p.Ala340Thr
XM_011538731.1:c.937G>A XP_011537033.1:p.Ala313Thr
XM_006719593.3:c.1018G>A XP_006719656.1:p.Ala340Thr
XM_011538731.2:c.937G>A XP_011537033.1:p.Ala313Thr
XM_017019961.1:c.802G>A XP_016875450.1:p.Ala268Thr
XM_017019962.2:c.-210G>A XP_016875451.1:n.-210G>A
NM_024312.5:c.1018G>A MANE Select NP_077288.2:p.Ala340Thr