Canonical Allele Identifier: CA396891413
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365429A>T , CM000678.2:g.81365429A>T GRCh38
NC_000016.9:g.81399034A>T , CM000678.1:g.81399034A>T GRCh37
NC_000016.8:g.79956535A>T NCBI36
NG_009007.1:g.55464A>T , LRG_242:g.55464A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1161A>T ENSP00000498114.1:n.*1161A>T
ENST00000648994.2:c.1453A>T MANE Select ENSP00000497351.1:p.Ser485Cys
ENST00000650388.1:c.987A>T ENSP00000498081.1:n.987A>T
ENST00000567335.1:n.11A>T
ENST00000568107.2:c.1453A>T ENSP00000476795.1:p.Ser485Cys
NM_022041.3:c.1453A>T , LRG_242t1:c.1453A>T NP_071324.1:p.Ser485Cys
XM_017023734.1:c.814A>T XP_016879223.1:p.Ser272Cys
NM_001377486.1:c.814A>T NP_001364415.1:p.Ser272Cys
NM_022041.4:c.1453A>T MANE Select NP_071324.1:p.Ser485Cys