Canonical Allele Identifier: CA2237043707
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358311T= , CM000678.2:g.81358311T= GRCh38
NC_000016.9:g.81391916T= , CM000678.1:g.81391916T= GRCh37
NC_000016.8:g.79949417T= NCBI36
NG_009007.1:g.48346T= , LRG_242:g.48346T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+380T= ENSP00000498114.1:n.*681+380T=
ENST00000648994.2:c.973+380T= MANE Select ENSP00000497351.1:n.973+380T=
ENST00000650388.1:c.507+380T= ENSP00000498081.1:n.507+380T=
ENST00000568107.2:c.973+380T= ENSP00000476795.1:n.973+380T=
NM_022041.3:c.973+380T= , LRG_242t1:c.973+380T= NP_071324.1:n.973+380T=
XM_017023734.1:c.334+380T= XP_016879223.1:n.334+380T=
NM_001377486.1:c.334+380T= NP_001364415.1:n.334+380T=
NM_022041.4:c.973+380T= MANE Select NP_071324.1:n.973+380T=