Canonical Allele Identifier: CA396891345
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 840391
ClinVar RCV Id: RCV001042364
dbSNP Id: rs1910819905

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365394T>C , CM000678.2:g.81365394T>C GRCh38
NC_000016.9:g.81398999T>C , CM000678.1:g.81398999T>C GRCh37
NC_000016.8:g.79956500T>C NCBI36
NG_009007.1:g.55429T>C , LRG_242:g.55429T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1126T>C ENSP00000498114.1:n.*1126T>C
ENST00000648994.2:c.1418T>C MANE Select ENSP00000497351.1:p.Phe473Ser
ENST00000650388.1:c.952T>C ENSP00000498081.1:n.952T>C
ENST00000568107.2:c.1418T>C ENSP00000476795.1:p.Phe473Ser
NM_022041.3:c.1418T>C , LRG_242t1:c.1418T>C NP_071324.1:p.Phe473Ser
XM_017023734.1:c.779T>C XP_016879223.1:p.Phe260Ser
NM_001377486.1:c.779T>C NP_001364415.1:p.Phe260Ser
NM_022041.4:c.1418T>C MANE Select NP_071324.1:p.Phe473Ser