Canonical Allele Identifier: CA8191534

Gene: GAN

Linked Data

• ClinVar Variation Id: 2037074
• ClinVar RCV Id: RCV002885481
• dbSNP Id: rs368910322
• ExAC: 16:81391484 C / T
• gnomAD v2: 16-81391484-C-T
• gnomAD v3: 16-81357879-C-T
• gnomAD v4: 16-81357879-C-T
• COSMIC: COSM177211
• MyVariant Identifiers: chr16:g.81391484C>T (hg19) ; chr16:g.81357879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357879C>T , CM000678.2:g.81357879C>T	GRCh38
NC_000016.9:g.81391484C>T , CM000678.1:g.81391484C>T	GRCh37
NC_000016.8:g.79948985C>T	NCBI36
NG_009007.1:g.47914C>T , LRG_242:g.47914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*629C>T	ENSP00000498114.1:n.*629C>T
ENST00000648994.2:c.921C>T MANE Select	ENSP00000497351.1:p.Ile307=
ENST00000650388.1:c.455C>T	ENSP00000498081.1:n.455C>T
ENST00000568107.2:c.921C>T	ENSP00000476795.1:p.Ile307=
NM_022041.3:c.921C>T , LRG_242t1:c.921C>T	NP_071324.1:p.Ile307=
XM_017023734.1:c.282C>T	XP_016879223.1:p.Ile94=
NM_001377486.1:c.282C>T	NP_001364415.1:p.Ile94=
NM_022041.4:c.921C>T MANE Select	NP_071324.1:p.Ile307=