Canonical Allele Identifier: CA396891264
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365353T>G , CM000678.2:g.81365353T>G GRCh38
NC_000016.9:g.81398958T>G , CM000678.1:g.81398958T>G GRCh37
NC_000016.8:g.79956459T>G NCBI36
NG_009007.1:g.55388T>G , LRG_242:g.55388T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1085T>G ENSP00000498114.1:n.*1085T>G
ENST00000648994.2:c.1377T>G MANE Select ENSP00000497351.1:p.Phe459Leu
ENST00000650388.1:c.911T>G ENSP00000498081.1:n.911T>G
ENST00000568107.2:c.1377T>G ENSP00000476795.1:p.Phe459Leu
NM_022041.3:c.1377T>G , LRG_242t1:c.1377T>G NP_071324.1:p.Phe459Leu
XM_017023734.1:c.738T>G XP_016879223.1:p.Phe246Leu
NM_001377486.1:c.738T>G NP_001364415.1:p.Phe246Leu
NM_022041.4:c.1377T>G MANE Select NP_071324.1:p.Phe459Leu