Canonical Allele Identifier: CA396873315
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357864C>A , CM000678.2:g.81357864C>A GRCh38
NC_000016.9:g.81391469C>A , CM000678.1:g.81391469C>A GRCh37
NC_000016.8:g.79948970C>A NCBI36
NG_009007.1:g.47899C>A , LRG_242:g.47899C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*614C>A ENSP00000498114.1:n.*614C>A
ENST00000648994.2:c.906C>A MANE Select ENSP00000497351.1:p.Asn302Lys
ENST00000650388.1:c.440C>A ENSP00000498081.1:n.440C>A
ENST00000568107.2:c.906C>A ENSP00000476795.1:p.Asn302Lys
NM_022041.3:c.906C>A , LRG_242t1:c.906C>A NP_071324.1:p.Asn302Lys
XM_017023734.1:c.267C>A XP_016879223.1:p.Asn89Lys
NM_001377486.1:c.267C>A NP_001364415.1:p.Asn89Lys
NM_022041.4:c.906C>A MANE Select NP_071324.1:p.Asn302Lys