Canonical Allele Identifier: CA2634489354
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365509C>G , CM000678.2:g.81365509C>G GRCh38
NC_000016.9:g.81399114C>G , CM000678.1:g.81399114C>G GRCh37
NC_000016.8:g.79956615C>G NCBI36
NG_009007.1:g.55544C>G , LRG_242:g.55544C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1210+31C>G ENSP00000498114.1:n.*1210+31C>G
ENST00000648994.2:c.1502+31C>G MANE Select ENSP00000497351.1:n.1502+31C>G
ENST00000650388.1:c.1036+31C>G ENSP00000498081.1:n.1036+31C>G
ENST00000567335.1:n.60+31C>G
ENST00000568107.2:c.1502+31C>G ENSP00000476795.1:n.1502+31C>G
NM_022041.3:c.1502+31C>G , LRG_242t1:c.1502+31C>G NP_071324.1:n.1502+31C>G
XM_017023734.1:c.863+31C>G XP_016879223.1:n.863+31C>G
NM_001377486.1:c.863+31C>G NP_001364415.1:n.863+31C>G
NM_022041.4:c.1502+31C>G MANE Select NP_071324.1:n.1502+31C>G