Canonical Allele Identifier: CA396868114
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354528G>C , CM000678.2:g.81354528G>C GRCh38
NC_000016.9:g.81388133G>C , CM000678.1:g.81388133G>C GRCh37
NC_000016.8:g.79945634G>C NCBI36
NG_009007.1:g.44563G>C , LRG_242:g.44563G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*114G>C ENSP00000498114.1:n.*114G>C
ENST00000648994.2:c.406G>C MANE Select ENSP00000497351.1:p.Gly136Arg
ENST00000650388.1:c.168-2257G>C ENSP00000498081.1:n.168-2257G>C
ENST00000674788.1:n.531G>C
ENST00000568107.2:c.406G>C ENSP00000476795.1:p.Gly136Arg
NM_022041.3:c.406G>C , LRG_242t1:c.406G>C NP_071324.1:p.Gly136Arg
XM_017023734.1:c.-234G>C XP_016879223.1:n.-234G>C
NM_001377486.1:c.-234G>C NP_001364415.1:n.-234G>C
NM_022041.4:c.406G>C MANE Select NP_071324.1:p.Gly136Arg