Canonical Allele Identifier: CA396873540
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357922C>T , CM000678.2:g.81357922C>T GRCh38
NC_000016.9:g.81391527C>T , CM000678.1:g.81391527C>T GRCh37
NC_000016.8:g.79949028C>T NCBI36
NG_009007.1:g.47957C>T , LRG_242:g.47957C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*672C>T ENSP00000498114.1:n.*672C>T
ENST00000648994.2:c.964C>T MANE Select ENSP00000497351.1:p.Leu322Phe
ENST00000650388.1:c.498C>T ENSP00000498081.1:n.498C>T
ENST00000568107.2:c.964C>T ENSP00000476795.1:p.Leu322Phe
NM_022041.3:c.964C>T , LRG_242t1:c.964C>T NP_071324.1:p.Leu322Phe
XM_017023734.1:c.325C>T XP_016879223.1:p.Leu109Phe
NM_001377486.1:c.325C>T NP_001364415.1:p.Leu109Phe
NM_022041.4:c.964C>T MANE Select NP_071324.1:p.Leu322Phe