Canonical Allele Identifier: CA2807834619
Gene: GAN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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