Canonical Allele Identifier: CA8154016

Gene: TAT

Linked Data

• ClinVar Variation Id: 432087
• ClinVar RCV Id: RCV000497415 ; RCV000984227
• dbSNP Id: rs759311161
• ExAC: 16:71609825 C / T
• gnomAD v2: 16-71609825-C-T
• gnomAD v4: 16-71575922-C-T
• COSMIC: COSM135724
• MyVariant Identifiers: chr16:g.71609825C>T (hg19) ; chr16:g.71575922C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.71575922C>T , CM000678.2:g.71575922C>T	GRCh38
NC_000016.9:g.71609825C>T , CM000678.1:g.71609825C>T	GRCh37
NC_000016.8:g.70167326C>T	NCBI36
NG_008235.1:g.6174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355962.5:c.340G>A MANE Select	ENSP00000348234.4:p.Gly114Ser
ENST00000355962.4:c.340G>A	ENSP00000348234.4:p.Gly114Ser
ENST00000566010.1:n.590G>A
ENST00000566094.5:n.436G>A
NM_000353.2:c.340G>A	NP_000344.1:p.Gly114Ser
NM_000353.3:c.340G>A MANE Select	NP_000344.1:p.Gly114Ser