Canonical Allele Identifier: CA396867595
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354469A>G , CM000678.2:g.81354469A>G GRCh38
NC_000016.9:g.81388074A>G , CM000678.1:g.81388074A>G GRCh37
NC_000016.8:g.79945575A>G NCBI36
NG_009007.1:g.44504A>G , LRG_242:g.44504A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*55A>G ENSP00000498114.1:n.*55A>G
ENST00000648994.2:c.347A>G MANE Select ENSP00000497351.1:p.Asp116Gly
ENST00000650388.1:c.168-2316A>G ENSP00000498081.1:n.168-2316A>G
ENST00000674788.1:n.472A>G
ENST00000568107.2:c.347A>G ENSP00000476795.1:p.Asp116Gly
NM_022041.3:c.347A>G , LRG_242t1:c.347A>G NP_071324.1:p.Asp116Gly
XM_017023734.1:c.-293A>G XP_016879223.1:n.-293A>G
NM_001377486.1:c.-293A>G NP_001364415.1:n.-293A>G
NM_022041.4:c.347A>G MANE Select NP_071324.1:p.Asp116Gly