Canonical Allele Identifier: CA8191349
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 533940
dbSNP Id: rs200045368

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354452C>T , CM000678.2:g.81354452C>T GRCh38
NC_000016.9:g.81388057C>T , CM000678.1:g.81388057C>T GRCh37
NC_000016.8:g.79945558C>T NCBI36
NG_009007.1:g.44487C>T , LRG_242:g.44487C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*38C>T ENSP00000498114.1:n.*38C>T
ENST00000648994.2:c.330C>T MANE Select ENSP00000497351.1:p.Asp110=
ENST00000650388.1:c.168-2333C>T ENSP00000498081.1:n.168-2333C>T
ENST00000674788.1:n.455C>T
ENST00000568107.2:c.330C>T ENSP00000476795.1:p.Asp110=
NM_022041.3:c.330C>T , LRG_242t1:c.330C>T NP_071324.1:p.Asp110=
XM_017023734.1:c.-310C>T XP_016879223.1:n.-310C>T
NM_001377486.1:c.-310C>T NP_001364415.1:n.-310C>T
NM_022041.4:c.330C>T MANE Select NP_071324.1:p.Asp110=