Canonical Allele Identifier: CA396873094
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 665088
ClinVar RCV Id: RCV000823298
dbSNP Id: rs1249160013

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357820C>G , CM000678.2:g.81357820C>G GRCh38
NC_000016.9:g.81391425C>G , CM000678.1:g.81391425C>G GRCh37
NC_000016.8:g.79948926C>G NCBI36
NG_009007.1:g.47855C>G , LRG_242:g.47855C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*570C>G ENSP00000498114.1:n.*570C>G
ENST00000648994.2:c.862C>G MANE Select ENSP00000497351.1:p.Pro288Ala
ENST00000650388.1:c.396C>G ENSP00000498081.1:n.396C>G
ENST00000568107.2:c.862C>G ENSP00000476795.1:p.Pro288Ala
NM_022041.3:c.862C>G , LRG_242t1:c.862C>G NP_071324.1:p.Pro288Ala
XM_017023734.1:c.223C>G XP_016879223.1:p.Pro75Ala
NM_001377486.1:c.223C>G NP_001364415.1:p.Pro75Ala
NM_022041.4:c.862C>G MANE Select NP_071324.1:p.Pro288Ala