Canonical Allele Identifier: CA284305644
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs886109224

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357850C>G , CM000678.2:g.81357850C>G GRCh38
NC_000016.9:g.81391455C>G , CM000678.1:g.81391455C>G GRCh37
NC_000016.8:g.79948956C>G NCBI36
NG_009007.1:g.47885C>G , LRG_242:g.47885C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*600C>G ENSP00000498114.1:n.*600C>G
ENST00000648994.2:c.892C>G MANE Select ENSP00000497351.1:p.Leu298Val
ENST00000650388.1:c.426C>G ENSP00000498081.1:n.426C>G
ENST00000568107.2:c.892C>G ENSP00000476795.1:p.Leu298Val
NM_022041.3:c.892C>G , LRG_242t1:c.892C>G NP_071324.1:p.Leu298Val
XM_017023734.1:c.253C>G XP_016879223.1:p.Leu85Val
NM_001377486.1:c.253C>G NP_001364415.1:p.Leu85Val
NM_022041.4:c.892C>G MANE Select NP_071324.1:p.Leu298Val