Canonical Allele Identifier: CA2237042431
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357852C= , CM000678.2:g.81357852C= GRCh38
NC_000016.9:g.81391457C= , CM000678.1:g.81391457C= GRCh37
NC_000016.8:g.79948958C= NCBI36
NG_009007.1:g.47887C= , LRG_242:g.47887C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*602C= ENSP00000498114.1:n.*602C=
ENST00000648994.2:c.894C= MANE Select ENSP00000497351.1:p.Leu298=
ENST00000650388.1:c.428C= ENSP00000498081.1:n.428C=
ENST00000568107.2:c.894C= ENSP00000476795.1:p.Leu298=
NM_022041.3:c.894C= , LRG_242t1:c.894C= NP_071324.1:p.Leu298=
XM_017023734.1:c.255C= XP_016879223.1:p.Leu85=
NM_001377486.1:c.255C= NP_001364415.1:p.Leu85=
NM_022041.4:c.894C= MANE Select NP_071324.1:p.Leu298=