Canonical Allele Identifier: CA8191247
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 1474016
ClinVar RCV Id: RCV001970980 RCV004042244
dbSNP Id: rs778653431
ExAC: 16:81348798 C / G
gnomAD v2: 16-81348798-C-G
gnomAD v3: 16-81315193-C-G
gnomAD v4: 16-81315193-C-G
MyVariant Identifiers: chr16:g.81348798C>G (hg19) chr16:g.81315193C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81315193C>G , CM000678.2:g.81315193C>G GRCh38
NC_000016.9:g.81348798C>G , CM000678.1:g.81348798C>G GRCh37
NC_000016.8:g.79906299C>G NCBI36
NG_009007.1:g.5228C>G , LRG_242:g.5228C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.80C>G ENSP00000498114.1:p.Ser27Cys
ENST00000648994.2:c.80C>G MANE Select ENSP00000497351.1:p.Ser27Cys
ENST00000650388.1:c.80C>G ENSP00000498081.1:p.Ser27Cys
ENST00000674788.1:n.205C>G
ENST00000568107.2:c.80C>G ENSP00000476795.1:p.Ser27Cys
NM_022041.3:c.80C>G , LRG_242t1:c.80C>G NP_071324.1:p.Ser27Cys
XM_017023734.1:c.-445C>G XP_016879223.1:n.-445C>G
NM_001377486.1:c.-445C>G NP_001364415.1:n.-445C>G
NM_022041.4:c.80C>G MANE Select NP_071324.1:p.Ser27Cys
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