Canonical Allele Identifier: CA386296357
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1566071860

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761691T>C , CM000674.2:g.101761691T>C GRCh38
NC_000012.11:g.102155469T>C , CM000674.1:g.102155469T>C GRCh37
NC_000012.10:g.100679600T>C NCBI36
NG_021243.1:g.74177A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2788A>G MANE Select ENSP00000299314.7:p.Thr930Ala
ENST00000299314.11:c.2788A>G ENSP00000299314.7:p.Thr930Ala
NM_024312.4:c.2788A>G NP_077288.2:p.Thr930Ala
XM_006719593.2:c.2788A>G XP_006719656.1:p.Thr930Ala
XM_011538731.1:c.2707A>G XP_011537033.1:p.Thr903Ala
XM_006719593.3:c.2788A>G XP_006719656.1:p.Thr930Ala
XM_011538731.2:c.2707A>G XP_011537033.1:p.Thr903Ala
XM_017019961.1:c.2572A>G XP_016875450.1:p.Thr858Ala
XM_017019962.2:c.1561A>G XP_016875451.1:p.Thr521Ala
NM_024312.5:c.2788A>G MANE Select NP_077288.2:p.Thr930Ala