Canonical Allele Identifier: CA8191538
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 1499199
ClinVar RCV Id: RCV002010493
dbSNP Id: rs751666826
ExAC: 16:81391500 A / G
gnomAD v2: 16-81391500-A-G
gnomAD v3: 16-81357895-A-G
gnomAD v4: 16-81357895-A-G
MyVariant Identifiers: chr16:g.81391500A>G (hg19) chr16:g.81357895A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357895A>G , CM000678.2:g.81357895A>G GRCh38
NC_000016.9:g.81391500A>G , CM000678.1:g.81391500A>G GRCh37
NC_000016.8:g.79949001A>G NCBI36
NG_009007.1:g.47930A>G , LRG_242:g.47930A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*645A>G ENSP00000498114.1:n.*645A>G
ENST00000648994.2:c.937A>G MANE Select ENSP00000497351.1:p.Ser313Gly
ENST00000650388.1:c.471A>G ENSP00000498081.1:n.471A>G
ENST00000568107.2:c.937A>G ENSP00000476795.1:p.Ser313Gly
NM_022041.3:c.937A>G , LRG_242t1:c.937A>G NP_071324.1:p.Ser313Gly
XM_017023734.1:c.298A>G XP_016879223.1:p.Ser100Gly
NM_001377486.1:c.298A>G NP_001364415.1:p.Ser100Gly
NM_022041.4:c.937A>G MANE Select NP_071324.1:p.Ser313Gly
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