Canonical Allele Identifier: CA396854624
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81315188G>T , CM000678.2:g.81315188G>T GRCh38
NC_000016.9:g.81348793G>T , CM000678.1:g.81348793G>T GRCh37
NC_000016.8:g.79906294G>T NCBI36
NG_009007.1:g.5223G>T , LRG_242:g.5223G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.75G>T ENSP00000498114.1:p.Glu25Asp
ENST00000648994.2:c.75G>T MANE Select ENSP00000497351.1:p.Glu25Asp
ENST00000650388.1:c.75G>T ENSP00000498081.1:p.Glu25Asp
ENST00000674788.1:n.200G>T
ENST00000568107.2:c.75G>T ENSP00000476795.1:p.Glu25Asp
NM_022041.3:c.75G>T , LRG_242t1:c.75G>T NP_071324.1:p.Glu25Asp
XM_017023734.1:c.-450G>T XP_016879223.1:n.-450G>T
NM_001377486.1:c.-450G>T NP_001364415.1:n.-450G>T
NM_022041.4:c.75G>T MANE Select NP_071324.1:p.Glu25Asp