Canonical Allele Identifier: CA396891321
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365383G>C , CM000678.2:g.81365383G>C GRCh38
NC_000016.9:g.81398988G>C , CM000678.1:g.81398988G>C GRCh37
NC_000016.8:g.79956489G>C NCBI36
NG_009007.1:g.55418G>C , LRG_242:g.55418G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1115G>C ENSP00000498114.1:n.*1115G>C
ENST00000648994.2:c.1407G>C MANE Select ENSP00000497351.1:p.Glu469Asp
ENST00000650388.1:c.941G>C ENSP00000498081.1:n.941G>C
ENST00000568107.2:c.1407G>C ENSP00000476795.1:p.Glu469Asp
NM_022041.3:c.1407G>C , LRG_242t1:c.1407G>C NP_071324.1:p.Glu469Asp
XM_017023734.1:c.768G>C XP_016879223.1:p.Glu256Asp
NM_001377486.1:c.768G>C NP_001364415.1:p.Glu256Asp
NM_022041.4:c.1407G>C MANE Select NP_071324.1:p.Glu469Asp