Canonical Allele Identifier: CA2237006778
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365527T= , CM000678.2:g.81365527T= GRCh38
NC_000016.9:g.81399132T= , CM000678.1:g.81399132T= GRCh37
NC_000016.8:g.79956633T= NCBI36
NG_009007.1:g.55562T= , LRG_242:g.55562T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1210+49T= ENSP00000498114.1:n.*1210+49T=
ENST00000648994.2:c.1502+49T= MANE Select ENSP00000497351.1:n.1502+49T=
ENST00000650388.1:c.1036+49T= ENSP00000498081.1:n.1036+49T=
ENST00000567335.1:n.60+49T=
ENST00000568107.2:c.1502+49T= ENSP00000476795.1:n.1502+49T=
NM_022041.3:c.1502+49T= , LRG_242t1:c.1502+49T= NP_071324.1:n.1502+49T=
XM_017023734.1:c.863+49T= XP_016879223.1:n.863+49T=
NM_001377486.1:c.863+49T= NP_001364415.1:n.863+49T=
NM_022041.4:c.1502+49T= MANE Select NP_071324.1:n.1502+49T=