Canonical Allele Identifier: CA386296250
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761645T>A , CM000674.2:g.101761645T>A GRCh38
NC_000012.11:g.102155423T>A , CM000674.1:g.102155423T>A GRCh37
NC_000012.10:g.100679554T>A NCBI36
NG_021243.1:g.74223A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2834A>T MANE Select ENSP00000299314.7:p.Lys945Met
ENST00000299314.11:c.2834A>T ENSP00000299314.7:p.Lys945Met
NM_024312.4:c.2834A>T NP_077288.2:p.Lys945Met
XM_006719593.2:c.2834A>T XP_006719656.1:p.Lys945Met
XM_011538731.1:c.2753A>T XP_011537033.1:p.Lys918Met
XM_006719593.3:c.2834A>T XP_006719656.1:p.Lys945Met
XM_011538731.2:c.2753A>T XP_011537033.1:p.Lys918Met
XM_017019961.1:c.2618A>T XP_016875450.1:p.Lys873Met
XM_017019962.2:c.1607A>T XP_016875451.1:p.Lys536Met
NM_024312.5:c.2834A>T MANE Select NP_077288.2:p.Lys945Met