Canonical Allele Identifier: CA2237042343
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357830C= , CM000678.2:g.81357830C= GRCh38
NC_000016.9:g.81391435C= , CM000678.1:g.81391435C= GRCh37
NC_000016.8:g.79948936C= NCBI36
NG_009007.1:g.47865C= , LRG_242:g.47865C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*580C= ENSP00000498114.1:n.*580C=
ENST00000648994.2:c.872C= MANE Select ENSP00000497351.1:p.Ala291=
ENST00000650388.1:c.406C= ENSP00000498081.1:n.406C=
ENST00000568107.2:c.872C= ENSP00000476795.1:p.Ala291=
NM_022041.3:c.872C= , LRG_242t1:c.872C= NP_071324.1:p.Ala291=
XM_017023734.1:c.233C= XP_016879223.1:p.Ala78=
NM_001377486.1:c.233C= NP_001364415.1:p.Ala78=
NM_022041.4:c.872C= MANE Select NP_071324.1:p.Ala291=