Canonical Allele Identifier: CA354805517

Gene: ATR

Linked Data

• ClinVar Variation Id: 1752803
• ClinVar RCV Id: RCV002368842
• MyVariant Identifiers: chr3:g.142188935C>A (hg19) ; chr3:g.142470093C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470093C>A , CM000665.2:g.142470093C>A	GRCh38
NC_000003.11:g.142188935C>A , CM000665.1:g.142188935C>A	GRCh37
NC_000003.10:g.143671625C>A	NCBI36
NG_008951.1:g.113734G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.6312G>T MANE Select	ENSP00000343741.4:p.Trp2104Cys
ENST00000513291.2:n.1496G>T
ENST00000654170.1:n.1155G>T
ENST00000656590.1:c.5102G>T
ENST00000661310.1:c.6120G>T	ENSP00000499589.1:p.Trp2040Cys
ENST00000665483.1:n.167G>T
ENST00000666447.1:n.147G>T
ENST00000666943.1:n.1776G>T
ENST00000350721.8:c.6312G>T	ENSP00000343741.4:p.Trp2104Cys
NM_001184.3:c.6312G>T	NP_001175.2:p.Trp2104Cys
XM_011512924.1:c.6318G>T	XP_011511226.1:p.Trp2106Cys
XM_011512925.1:c.6126G>T	XP_011511227.1:p.Trp2042Cys
XR_924147.1:n.6407G>T
XR_924148.1:n.6407G>T
XR_924149.1:n.6286G>T
NM_001354579.1:c.6120G>T	NP_001341508.1:p.Trp2040Cys
XR_001740179.2:n.6401G>T
XR_001740180.2:n.6455G>T
XR_001740181.2:n.6334G>T
XR_001740182.1:n.6286G>T
XR_002959543.1:n.6511G>T
XR_924148.2:n.6407G>T
NM_001184.4:c.6312G>T MANE Select	NP_001175.2:p.Trp2104Cys
NM_001354579.2:c.6120G>T	NP_001341508.1:p.Trp2040Cys