Canonical Allele Identifier: CA2807834616
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365256A>G , CM000678.2:g.81365256A>G GRCh38
NC_000016.9:g.81398861A>G , CM000678.1:g.81398861A>G GRCh37
NC_000016.8:g.79956362A>G NCBI36
NG_009007.1:g.55291A>G , LRG_242:g.55291A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1082-94A>G ENSP00000498114.1:n.*1082-94A>G
ENST00000648994.2:c.1374-94A>G MANE Select ENSP00000497351.1:n.1374-94A>G
ENST00000650388.1:c.908-94A>G ENSP00000498081.1:n.908-94A>G
ENST00000568107.2:c.1374-94A>G ENSP00000476795.1:n.1374-94A>G
NM_022041.3:c.1374-94A>G , LRG_242t1:c.1374-94A>G NP_071324.1:n.1374-94A>G
XM_017023734.1:c.735-94A>G XP_016879223.1:n.735-94A>G
NM_001377486.1:c.735-94A>G NP_001364415.1:n.735-94A>G
NM_022041.4:c.1374-94A>G MANE Select NP_071324.1:n.1374-94A>G