Canonical Allele Identifier: CA396891341
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365393T>A , CM000678.2:g.81365393T>A GRCh38
NC_000016.9:g.81398998T>A , CM000678.1:g.81398998T>A GRCh37
NC_000016.8:g.79956499T>A NCBI36
NG_009007.1:g.55428T>A , LRG_242:g.55428T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1125T>A ENSP00000498114.1:n.*1125T>A
ENST00000648994.2:c.1417T>A MANE Select ENSP00000497351.1:p.Phe473Ile
ENST00000650388.1:c.951T>A ENSP00000498081.1:n.951T>A
ENST00000568107.2:c.1417T>A ENSP00000476795.1:p.Phe473Ile
NM_022041.3:c.1417T>A , LRG_242t1:c.1417T>A NP_071324.1:p.Phe473Ile
XM_017023734.1:c.778T>A XP_016879223.1:p.Phe260Ile
NM_001377486.1:c.778T>A NP_001364415.1:p.Phe260Ile
NM_022041.4:c.1417T>A MANE Select NP_071324.1:p.Phe473Ile