Canonical Allele Identifier: CA386296178
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761609A>T , CM000674.2:g.101761609A>T GRCh38
NC_000012.11:g.102155387A>T , CM000674.1:g.102155387A>T GRCh37
NC_000012.10:g.100679518A>T NCBI36
NG_021243.1:g.74259T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2870T>A MANE Select ENSP00000299314.7:p.Met957Lys
ENST00000299314.11:c.2870T>A ENSP00000299314.7:p.Met957Lys
NM_024312.4:c.2870T>A NP_077288.2:p.Met957Lys
XM_006719593.2:c.2870T>A XP_006719656.1:p.Met957Lys
XM_011538731.1:c.2789T>A XP_011537033.1:p.Met930Lys
XM_006719593.3:c.2870T>A XP_006719656.1:p.Met957Lys
XM_011538731.2:c.2789T>A XP_011537033.1:p.Met930Lys
XM_017019961.1:c.2654T>A XP_016875450.1:p.Met885Lys
XM_017019962.2:c.1643T>A XP_016875451.1:p.Met548Lys
NM_024312.5:c.2870T>A MANE Select NP_077288.2:p.Met957Lys