Canonical Allele Identifier: CA396873226
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357848C>A , CM000678.2:g.81357848C>A GRCh38
NC_000016.9:g.81391453C>A , CM000678.1:g.81391453C>A GRCh37
NC_000016.8:g.79948954C>A NCBI36
NG_009007.1:g.47883C>A , LRG_242:g.47883C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*598C>A ENSP00000498114.1:n.*598C>A
ENST00000648994.2:c.890C>A MANE Select ENSP00000497351.1:p.Pro297His
ENST00000650388.1:c.424C>A ENSP00000498081.1:n.424C>A
ENST00000568107.2:c.890C>A ENSP00000476795.1:p.Pro297His
NM_022041.3:c.890C>A , LRG_242t1:c.890C>A NP_071324.1:p.Pro297His
XM_017023734.1:c.251C>A XP_016879223.1:p.Pro84His
NM_001377486.1:c.251C>A NP_001364415.1:p.Pro84His
NM_022041.4:c.890C>A MANE Select NP_071324.1:p.Pro297His