Canonical Allele Identifier: CA386296322
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761676G>A , CM000674.2:g.101761676G>A GRCh38
NC_000012.11:g.102155454G>A , CM000674.1:g.102155454G>A GRCh37
NC_000012.10:g.100679585G>A NCBI36
NG_021243.1:g.74192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2803C>T MANE Select ENSP00000299314.7:p.Leu935Phe
ENST00000299314.11:c.2803C>T ENSP00000299314.7:p.Leu935Phe
NM_024312.4:c.2803C>T NP_077288.2:p.Leu935Phe
XM_006719593.2:c.2803C>T XP_006719656.1:p.Leu935Phe
XM_011538731.1:c.2722C>T XP_011537033.1:p.Leu908Phe
XM_006719593.3:c.2803C>T XP_006719656.1:p.Leu935Phe
XM_011538731.2:c.2722C>T XP_011537033.1:p.Leu908Phe
XM_017019961.1:c.2587C>T XP_016875450.1:p.Leu863Phe
XM_017019962.2:c.1576C>T XP_016875451.1:p.Leu526Phe
NM_024312.5:c.2803C>T MANE Select NP_077288.2:p.Leu935Phe