Canonical Allele Identifier: CA396854584
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1373462718

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81315182C>G , CM000678.2:g.81315182C>G GRCh38
NC_000016.9:g.81348787C>G , CM000678.1:g.81348787C>G GRCh37
NC_000016.8:g.79906288C>G NCBI36
NG_009007.1:g.5217C>G , LRG_242:g.5217C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.69C>G ENSP00000498114.1:p.Phe23Leu
ENST00000648994.2:c.69C>G MANE Select ENSP00000497351.1:p.Phe23Leu
ENST00000650388.1:c.69C>G ENSP00000498081.1:p.Phe23Leu
ENST00000674788.1:n.194C>G
ENST00000568107.2:c.69C>G ENSP00000476795.1:p.Phe23Leu
NM_022041.3:c.69C>G , LRG_242t1:c.69C>G NP_071324.1:p.Phe23Leu
XM_017023734.1:c.-456C>G XP_016879223.1:n.-456C>G
NM_001377486.1:c.-456C>G NP_001364415.1:n.-456C>G
NM_022041.4:c.69C>G MANE Select NP_071324.1:p.Phe23Leu