Canonical Allele Identifier: CA2237006715
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365414G= , CM000678.2:g.81365414G= GRCh38
NC_000016.9:g.81399019G= , CM000678.1:g.81399019G= GRCh37
NC_000016.8:g.79956520G= NCBI36
NG_009007.1:g.55449G= , LRG_242:g.55449G=

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*1146G= ENSP00000498114.1:n.*1146G=
ENST00000648994.2:c.1438G= MANE Select ENSP00000497351.1:p.Glu480=
ENST00000650388.1:c.972G= ENSP00000498081.1:n.972G=
ENST00000568107.2:c.1438G= ENSP00000476795.1:p.Glu480=
NM_022041.3:c.1438G= , LRG_242t1:c.1438G= NP_071324.1:p.Glu480=
XM_017023734.1:c.799G= XP_016879223.1:p.Glu267=
NM_001377486.1:c.799G= NP_001364415.1:p.Glu267=
NM_022041.4:c.1438G= MANE Select NP_071324.1:p.Glu480=