Canonical Allele Identifier: CA386304952
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786097A>T , CM000674.2:g.101786097A>T GRCh38
NC_000012.11:g.102179875A>T , CM000674.1:g.102179875A>T GRCh37
NC_000012.10:g.100704006A>T NCBI36
NG_021243.1:g.49771T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.486T>A MANE Select ENSP00000299314.7:p.His162Gln
ENST00000299314.11:c.486T>A ENSP00000299314.7:p.His162Gln
ENST00000549940.5:c.486T>A ENSP00000449150.1:p.His162Gln
ENST00000550352.1:n.280T>A
ENST00000552681.1:c.120T>A ENSP00000449217.1:p.His40Gln
NM_024312.4:c.486T>A NP_077288.2:p.His162Gln
XM_006719593.2:c.486T>A XP_006719656.1:p.His162Gln
XM_011538731.1:c.405T>A XP_011537033.1:p.His135Gln
XM_006719593.3:c.486T>A XP_006719656.1:p.His162Gln
XM_011538731.2:c.405T>A XP_011537033.1:p.His135Gln
XM_017019961.1:c.270T>A XP_016875450.1:p.His90Gln
XM_017019962.2:c.-865T>A XP_016875451.1:n.-865T>A
NM_024312.5:c.486T>A MANE Select NP_077288.2:p.His162Gln