Canonical Allele Identifier: CA354814674

Gene: ATR

Linked Data

• dbSNP Id: rs1246324901
• gnomAD v2: 3-142272173-C-T
• gnomAD v3: 3-142553331-C-T
• gnomAD v4: 3-142553331-C-T
• MyVariant Identifiers: chr3:g.142272173C>T (hg19) ; chr3:g.142553331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553331C>T , CM000665.2:g.142553331C>T	GRCh38
NC_000003.11:g.142272173C>T , CM000665.1:g.142272173C>T	GRCh37
NC_000003.10:g.143754863C>T	NCBI36
NG_008951.1:g.30496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2701G>A MANE Select	ENSP00000343741.4:p.Ala901Thr
ENST00000515149.3:c.*1475G>A	ENSP00000425897.3:n.*1475G>A
ENST00000653868.1:n.2730G>A
ENST00000656590.1:c.1491G>A
ENST00000659195.1:n.5576G>A
ENST00000661310.1:c.2509G>A	ENSP00000499589.1:p.Ala837Thr
ENST00000350721.8:c.2701G>A	ENSP00000343741.4:p.Ala901Thr
NM_001184.3:c.2701G>A	NP_001175.2:p.Ala901Thr
XM_011512924.1:c.2701G>A	XP_011511226.1:p.Ala901Thr
XM_011512925.1:c.2509G>A	XP_011511227.1:p.Ala837Thr
XM_011512926.1:c.2701G>A	XP_011511228.1:p.Ala901Thr
XM_011512927.1:c.2701G>A	XP_011511229.1:p.Ala901Thr
XR_924147.1:n.2790G>A
XR_924148.1:n.2790G>A
XR_924149.1:n.2790G>A
NM_001354579.1:c.2509G>A	NP_001341508.1:p.Ala837Thr
XR_001740179.2:n.2790G>A
XR_001740180.2:n.2790G>A
XR_001740181.2:n.2790G>A
XR_001740182.1:n.2790G>A
XR_002959543.1:n.2790G>A
XR_924148.2:n.2790G>A
NM_001184.4:c.2701G>A MANE Select	NP_001175.2:p.Ala901Thr
NM_001354579.2:c.2509G>A	NP_001341508.1:p.Ala837Thr