Canonical Allele Identifier: CA8191407
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 382229
dbSNP Id: rs112194888

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354774A>G , CM000678.2:g.81354774A>G GRCh38
NC_000016.9:g.81388379A>G , CM000678.1:g.81388379A>G GRCh37
NC_000016.8:g.79945880A>G NCBI36
NG_009007.1:g.44809A>G , LRG_242:g.44809A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*341+19A>G ENSP00000498114.1:n.*341+19A>G
ENST00000648994.2:c.633+19A>G MANE Select ENSP00000497351.1:n.633+19A>G
ENST00000650388.1:c.168-2011A>G ENSP00000498081.1:n.168-2011A>G
ENST00000674788.1:n.777A>G
ENST00000568107.2:c.633+19A>G ENSP00000476795.1:n.633+19A>G
NM_022041.3:c.633+19A>G , LRG_242t1:c.633+19A>G NP_071324.1:n.633+19A>G
XM_017023734.1:c.-7+19A>G XP_016879223.1:n.-7+19A>G
NM_001377486.1:c.-7+19A>G NP_001364415.1:n.-7+19A>G
NM_022041.4:c.633+19A>G MANE Select NP_071324.1:n.633+19A>G