Canonical Allele Identifier: CA396891303
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365375G>C , CM000678.2:g.81365375G>C GRCh38
NC_000016.9:g.81398980G>C , CM000678.1:g.81398980G>C GRCh37
NC_000016.8:g.79956481G>C NCBI36
NG_009007.1:g.55410G>C , LRG_242:g.55410G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1107G>C ENSP00000498114.1:n.*1107G>C
ENST00000648994.2:c.1399G>C MANE Select ENSP00000497351.1:p.Ala467Pro
ENST00000650388.1:c.933G>C ENSP00000498081.1:n.933G>C
ENST00000568107.2:c.1399G>C ENSP00000476795.1:p.Ala467Pro
NM_022041.3:c.1399G>C , LRG_242t1:c.1399G>C NP_071324.1:p.Ala467Pro
XM_017023734.1:c.760G>C XP_016879223.1:p.Ala254Pro
NM_001377486.1:c.760G>C NP_001364415.1:p.Ala254Pro
NM_022041.4:c.1399G>C MANE Select NP_071324.1:p.Ala467Pro