Canonical Allele Identifier: CA396868074
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354525A>T , CM000678.2:g.81354525A>T GRCh38
NC_000016.9:g.81388130A>T , CM000678.1:g.81388130A>T GRCh37
NC_000016.8:g.79945631A>T NCBI36
NG_009007.1:g.44560A>T , LRG_242:g.44560A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*111A>T ENSP00000498114.1:n.*111A>T
ENST00000648994.2:c.403A>T MANE Select ENSP00000497351.1:p.Ile135Phe
ENST00000650388.1:c.168-2260A>T ENSP00000498081.1:n.168-2260A>T
ENST00000674788.1:n.528A>T
ENST00000568107.2:c.403A>T ENSP00000476795.1:p.Ile135Phe
NM_022041.3:c.403A>T , LRG_242t1:c.403A>T NP_071324.1:p.Ile135Phe
XM_017023734.1:c.-237A>T XP_016879223.1:n.-237A>T
NM_001377486.1:c.-237A>T NP_001364415.1:n.-237A>T
NM_022041.4:c.403A>T MANE Select NP_071324.1:p.Ile135Phe