Canonical Allele Identifier: CA396891299
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365373T>G , CM000678.2:g.81365373T>G GRCh38
NC_000016.9:g.81398978T>G , CM000678.1:g.81398978T>G GRCh37
NC_000016.8:g.79956479T>G NCBI36
NG_009007.1:g.55408T>G , LRG_242:g.55408T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1105T>G ENSP00000498114.1:n.*1105T>G
ENST00000648994.2:c.1397T>G MANE Select ENSP00000497351.1:p.Val466Gly
ENST00000650388.1:c.931T>G ENSP00000498081.1:n.931T>G
ENST00000568107.2:c.1397T>G ENSP00000476795.1:p.Val466Gly
NM_022041.3:c.1397T>G , LRG_242t1:c.1397T>G NP_071324.1:p.Val466Gly
XM_017023734.1:c.758T>G XP_016879223.1:p.Val253Gly
NM_001377486.1:c.758T>G NP_001364415.1:p.Val253Gly
NM_022041.4:c.1397T>G MANE Select NP_071324.1:p.Val466Gly