Canonical Allele Identifier: CA396891384
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365414G>C , CM000678.2:g.81365414G>C GRCh38
NC_000016.9:g.81399019G>C , CM000678.1:g.81399019G>C GRCh37
NC_000016.8:g.79956520G>C NCBI36
NG_009007.1:g.55449G>C , LRG_242:g.55449G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*1146G>C ENSP00000498114.1:n.*1146G>C
ENST00000648994.2:c.1438G>C MANE Select ENSP00000497351.1:p.Glu480Gln
ENST00000650388.1:c.972G>C ENSP00000498081.1:n.972G>C
ENST00000568107.2:c.1438G>C ENSP00000476795.1:p.Glu480Gln
NM_022041.3:c.1438G>C , LRG_242t1:c.1438G>C NP_071324.1:p.Glu480Gln
XM_017023734.1:c.799G>C XP_016879223.1:p.Glu267Gln
NM_001377486.1:c.799G>C NP_001364415.1:p.Glu267Gln
NM_022041.4:c.1438G>C MANE Select NP_071324.1:p.Glu480Gln