Canonical Allele Identifier: CA386302611
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1204T>G MANE Select ENSP00000299314.7:p.Phe402Val
ENST00000299314.11:c.1204T>G ENSP00000299314.7:p.Phe402Val
ENST00000549940.5:c.1204T>G ENSP00000449150.1:p.Phe402Val
NM_024312.4:c.1204T>G NP_077288.2:p.Phe402Val
XM_006719593.2:c.1204T>G XP_006719656.1:p.Phe402Val
XM_011538731.1:c.1123T>G XP_011537033.1:p.Phe375Val
XM_006719593.3:c.1204T>G XP_006719656.1:p.Phe402Val
XM_011538731.2:c.1123T>G XP_011537033.1:p.Phe375Val
XM_017019961.1:c.988T>G XP_016875450.1:p.Phe330Val
XM_017019962.2:c.-24T>G XP_016875451.1:n.-24T>G
NM_024312.5:c.1204T>G MANE Select NP_077288.2:p.Phe402Val