Canonical Allele Identifier: CA185877

Gene: TAC3

Linked Data

• ClinVar Variation Id: 180150
• ClinVar RCV Id: RCV000156948 ; RCV001327940 ; RCV001857549
• dbSNP Id: rs143862988
• ExAC: 12:57406650 T / C
• gnomAD v2: 12-57406650-T-C
• gnomAD v3: 12-57012866-T-C
• gnomAD v4: 12-57012866-T-C
• MyVariant Identifiers: chr12:g.57406650T>C (hg19) ; chr12:g.57012866T>C (hg38)
• PubMed: PMID:25636053

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57012866T>C , CM000674.2:g.57012866T>C	GRCh38
NC_000012.11:g.57406650T>C , CM000674.1:g.57406650T>C	GRCh37
NC_000012.10:g.55692917T>C	NCBI36
NG_021398.1:g.8695A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000458521.7:c.248A>G MANE Select	ENSP00000404056.2:p.His83Arg
ENST00000300108.7:c.248A>G	ENSP00000300108.3:p.His83Arg
ENST00000357616.7:c.248A>G	ENSP00000350236.3:p.His83Arg
ENST00000379411.6:c.239-414A>G	ENSP00000368721.2:n.239-414A>G
ENST00000393867.5:c.248A>G	ENSP00000377445.1:p.His83Arg
ENST00000415231.1:c.248A>G	ENSP00000402995.1:p.His83Arg
ENST00000423597.5:c.239-414A>G	ENSP00000416292.1:n.239-414A>G
ENST00000438756.5:c.248A>G	ENSP00000408131.1:p.His83Arg
ENST00000441881.5:c.239-414A>G	ENSP00000408208.1:n.239-414A>G
ENST00000458521.6:c.248A>G	ENSP00000404056.2:p.His83Arg
ENST00000615887.4:c.248A>G	ENSP00000483110.1:p.His83Arg
NM_001178054.1:c.239-414A>G	NP_001171525.1:n.239-414A>G
NM_013251.3:c.248A>G	NP_037383.1:p.His83Arg
NR_033654.1:n.427A>G
XM_011538711.1:c.248A>G	XP_011537013.1:p.His83Arg
NR_135164.1:n.427A>G
NR_135165.1:n.427A>G
NR_135166.1:n.418-414A>G
NM_013251.4:c.248A>G MANE Select	NP_037383.1:p.His83Arg
NM_001178054.2:c.239-414A>G	NP_001171525.1:n.239-414A>G
NR_033654.2:n.396A>G
NR_135164.2:n.396A>G
NR_135165.2:n.396A>G
NR_135166.2:n.387-414A>G