Canonical Allele Identifier: CA8191767
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs146576740

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365421C>A , CM000678.2:g.81365421C>A GRCh38
NC_000016.9:g.81399026C>A , CM000678.1:g.81399026C>A GRCh37
NC_000016.8:g.79956527C>A NCBI36
NG_009007.1:g.55456C>A , LRG_242:g.55456C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1153C>A ENSP00000498114.1:n.*1153C>A
ENST00000648994.2:c.1445C>A MANE Select ENSP00000497351.1:p.Ala482Asp
ENST00000650388.1:c.979C>A ENSP00000498081.1:n.979C>A
ENST00000567335.1:n.3C>A
ENST00000568107.2:c.1445C>A ENSP00000476795.1:p.Ala482Asp
NM_022041.3:c.1445C>A , LRG_242t1:c.1445C>A NP_071324.1:p.Ala482Asp
XM_017023734.1:c.806C>A XP_016879223.1:p.Ala269Asp
NM_001377486.1:c.806C>A NP_001364415.1:p.Ala269Asp
NM_022041.4:c.1445C>A MANE Select NP_071324.1:p.Ala482Asp