Canonical Allele Identifier: CA386296115
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761580G>T , CM000674.2:g.101761580G>T GRCh38
NC_000012.11:g.102155358G>T , CM000674.1:g.102155358G>T GRCh37
NC_000012.10:g.100679489G>T NCBI36
NG_021243.1:g.74288C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2899C>A MANE Select ENSP00000299314.7:p.Gln967Lys
ENST00000299314.11:c.2899C>A ENSP00000299314.7:p.Gln967Lys
NM_024312.4:c.2899C>A NP_077288.2:p.Gln967Lys
XM_006719593.2:c.2899C>A XP_006719656.1:p.Gln967Lys
XM_011538731.1:c.2818C>A XP_011537033.1:p.Gln940Lys
XM_006719593.3:c.2899C>A XP_006719656.1:p.Gln967Lys
XM_011538731.2:c.2818C>A XP_011537033.1:p.Gln940Lys
XM_017019961.1:c.2683C>A XP_016875450.1:p.Gln895Lys
XM_017019962.2:c.1672C>A XP_016875451.1:p.Gln558Lys
NM_024312.5:c.2899C>A MANE Select NP_077288.2:p.Gln967Lys