Canonical Allele Identifier: CA114240

Gene: TAT

Linked Data

• ClinVar Variation Id: 402
• ClinVar RCV Id: RCV000000429 ; RCV000760433
• dbSNP Id: rs118203914
• ExAC: 16:71610150 G / A
• gnomAD v2: 16-71610150-G-A
• gnomAD v4: 16-71576247-G-A
• COSMIC: COSM1379615
• MyVariant Identifiers: chr16:g.71610150G>A (hg19) ; chr16:g.71576247G>A (hg38)
• PubMed: PMID:1357662

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.71576247G>A , CM000678.2:g.71576247G>A	GRCh38
NC_000016.9:g.71610150G>A , CM000678.1:g.71610150G>A	GRCh37
NC_000016.8:g.70167651G>A	NCBI36
NG_008235.1:g.5849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355962.5:c.169C>T MANE Select	ENSP00000348234.4:p.Arg57Ter
ENST00000355962.4:c.169C>T	ENSP00000348234.4:p.Arg57Ter
ENST00000566010.1:n.265C>T
ENST00000566094.5:n.265C>T
NM_000353.2:c.169C>T	NP_000344.1:p.Arg57Ter
NM_000353.3:c.169C>T MANE Select	NP_000344.1:p.Arg57Ter