Canonical Allele Identifier: CA496698921
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 2160832
ClinVar RCV Id: RCV003087739
dbSNP Id: rs1452147058
gnomAD v2: 16-81391445-C-T
gnomAD v4: 16-81357840-C-T
MyVariant Identifiers: chr16:g.81391445C>T (hg19) chr16:g.81357840C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357840C>T , CM000678.2:g.81357840C>T GRCh38
NC_000016.9:g.81391445C>T , CM000678.1:g.81391445C>T GRCh37
NC_000016.8:g.79948946C>T NCBI36
NG_009007.1:g.47875C>T , LRG_242:g.47875C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*590C>T ENSP00000498114.1:n.*590C>T
ENST00000648994.2:c.882C>T MANE Select ENSP00000497351.1:p.Cys294=
ENST00000650388.1:c.416C>T ENSP00000498081.1:n.416C>T
ENST00000568107.2:c.882C>T ENSP00000476795.1:p.Cys294=
NM_022041.3:c.882C>T , LRG_242t1:c.882C>T NP_071324.1:p.Cys294=
XM_017023734.1:c.243C>T XP_016879223.1:p.Cys81=
NM_001377486.1:c.243C>T NP_001364415.1:p.Cys81=
NM_022041.4:c.882C>T MANE Select NP_071324.1:p.Cys294=
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