Canonical Allele Identifier: CA10587250
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 261480
dbSNP Id: rs563049431

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365024C>G , CM000678.2:g.81365024C>G GRCh38
NC_000016.9:g.81398629C>G , CM000678.1:g.81398629C>G GRCh37
NC_000016.8:g.79956130C>G NCBI36
NG_009007.1:g.55059C>G , LRG_242:g.55059C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*995C>G ENSP00000498114.1:n.*995C>G
ENST00000648994.2:c.1287C>G MANE Select ENSP00000497351.1:p.Gly429=
ENST00000650388.1:c.821C>G ENSP00000498081.1:n.821C>G
ENST00000568107.2:c.1287C>G ENSP00000476795.1:p.Gly429=
NM_022041.3:c.1287C>G , LRG_242t1:c.1287C>G NP_071324.1:p.Gly429=
XM_017023734.1:c.648C>G XP_016879223.1:p.Gly216=
NM_001377486.1:c.648C>G NP_001364415.1:p.Gly216=
NM_022041.4:c.1287C>G MANE Select NP_071324.1:p.Gly429=