Canonical Allele Identifier: CA354812145

Gene: ATR

Linked Data

• gnomAD v4: 3-142549489-T-G
• MyVariant Identifiers: chr3:g.142268331T>G (hg19) ; chr3:g.142549489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142549489T>G , CM000665.2:g.142549489T>G	GRCh38
NC_000003.11:g.142268331T>G , CM000665.1:g.142268331T>G	GRCh37
NC_000003.10:g.143751021T>G	NCBI36
NG_008951.1:g.34338A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.3161A>C MANE Select	ENSP00000343741.4:p.His1054Pro
ENST00000515149.3:c.*1935A>C	ENSP00000425897.3:n.*1935A>C
ENST00000653868.1:n.3190A>C
ENST00000656582.1:n.420A>C
ENST00000656590.1:c.1951A>C
ENST00000661310.1:c.2969A>C	ENSP00000499589.1:p.His990Pro
ENST00000350721.8:c.3161A>C	ENSP00000343741.4:p.His1054Pro
NM_001184.3:c.3161A>C	NP_001175.2:p.His1054Pro
XM_011512924.1:c.3161A>C	XP_011511226.1:p.His1054Pro
XM_011512925.1:c.2969A>C	XP_011511227.1:p.His990Pro
XM_011512926.1:c.3161A>C	XP_011511228.1:p.His1054Pro
XM_011512927.1:c.3161A>C	XP_011511229.1:p.His1054Pro
XR_924147.1:n.3250A>C
XR_924148.1:n.3250A>C
XR_924149.1:n.3250A>C
NM_001354579.1:c.2969A>C	NP_001341508.1:p.His990Pro
XR_001740179.2:n.3250A>C
XR_001740180.2:n.3250A>C
XR_001740181.2:n.3250A>C
XR_001740182.1:n.3250A>C
XR_002959543.1:n.3250A>C
XR_924148.2:n.3250A>C
NM_001184.4:c.3161A>C MANE Select	NP_001175.2:p.His1054Pro
NM_001354579.2:c.2969A>C	NP_001341508.1:p.His990Pro