Canonical Allele Identifier: CA2237033299
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354700G= , CM000678.2:g.81354700G= GRCh38
NC_000016.9:g.81388305G= , CM000678.1:g.81388305G= GRCh37
NC_000016.8:g.79945806G= NCBI36
NG_009007.1:g.44735G= , LRG_242:g.44735G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*286G= ENSP00000498114.1:n.*286G=
ENST00000648994.2:c.578G= MANE Select ENSP00000497351.1:p.Arg193=
ENST00000650388.1:c.168-2085G= ENSP00000498081.1:n.168-2085G=
ENST00000674788.1:n.703G=
ENST00000568107.2:c.578G= ENSP00000476795.1:p.Arg193=
NM_022041.3:c.578G= , LRG_242t1:c.578G= NP_071324.1:p.Arg193=
XM_017023734.1:c.-62G= XP_016879223.1:n.-62G=
NM_001377486.1:c.-62G= NP_001364415.1:n.-62G=
NM_022041.4:c.578G= MANE Select NP_071324.1:p.Arg193=