Canonical Allele Identifier: CA2058957869
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770101A= , CM000674.2:g.101770101A= GRCh38
NC_000012.11:g.102163879A= , CM000674.1:g.102163879A= GRCh37
NC_000012.10:g.100688010A= NCBI36
NG_021243.1:g.65767T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1204T= MANE Select ENSP00000299314.7:p.Phe402=
ENST00000299314.11:c.1204T= ENSP00000299314.7:p.Phe402=
ENST00000549940.5:c.1204T= ENSP00000449150.1:p.Phe402=
NM_024312.4:c.1204T= NP_077288.2:p.Phe402=
XM_006719593.2:c.1204T= XP_006719656.1:p.Phe402=
XM_011538731.1:c.1123T= XP_011537033.1:p.Phe375=
XM_006719593.3:c.1204T= XP_006719656.1:p.Phe402=
XM_011538731.2:c.1123T= XP_011537033.1:p.Phe375=
XM_017019961.1:c.988T= XP_016875450.1:p.Phe330=
XM_017019962.2:c.-24T= XP_016875451.1:n.-24T=
NM_024312.5:c.1204T= MANE Select NP_077288.2:p.Phe402=