Canonical Allele Identifier: CA396891393
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365418A>C , CM000678.2:g.81365418A>C GRCh38
NC_000016.9:g.81399023A>C , CM000678.1:g.81399023A>C GRCh37
NC_000016.8:g.79956524A>C NCBI36
NG_009007.1:g.55453A>C , LRG_242:g.55453A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*1150A>C ENSP00000498114.1:n.*1150A>C
ENST00000648994.2:c.1442A>C MANE Select ENSP00000497351.1:p.Asp481Ala
ENST00000650388.1:c.976A>C ENSP00000498081.1:n.976A>C
ENST00000568107.2:c.1442A>C ENSP00000476795.1:p.Asp481Ala
NM_022041.3:c.1442A>C , LRG_242t1:c.1442A>C NP_071324.1:p.Asp481Ala
XM_017023734.1:c.803A>C XP_016879223.1:p.Asp268Ala
NM_001377486.1:c.803A>C NP_001364415.1:p.Asp268Ala
NM_022041.4:c.1442A>C MANE Select NP_071324.1:p.Asp481Ala