Canonical Allele Identifier: CA2237042614
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357913C= , CM000678.2:g.81357913C= GRCh38
NC_000016.9:g.81391518C= , CM000678.1:g.81391518C= GRCh37
NC_000016.8:g.79949019C= NCBI36
NG_009007.1:g.47948C= , LRG_242:g.47948C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*663C= ENSP00000498114.1:n.*663C=
ENST00000648994.2:c.955C= MANE Select ENSP00000497351.1:p.His319=
ENST00000650388.1:c.489C= ENSP00000498081.1:n.489C=
ENST00000568107.2:c.955C= ENSP00000476795.1:p.His319=
NM_022041.3:c.955C= , LRG_242t1:c.955C= NP_071324.1:p.His319=
XM_017023734.1:c.316C= XP_016879223.1:p.His106=
NM_001377486.1:c.316C= NP_001364415.1:p.His106=
NM_022041.4:c.955C= MANE Select NP_071324.1:p.His319=