Canonical Allele Identifier: CA1054350119

Gene: ATR

Linked Data

• dbSNP Id: rs2034551169
• gnomAD v3: 3-142553443-C-A
• gnomAD v4: 3-142553443-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553443C>A , CM000665.2:g.142553443C>A	GRCh38
NC_000003.11:g.142272285C>A , CM000665.1:g.142272285C>A	GRCh37
NC_000003.10:g.143754975C>A	NCBI36
NG_008951.1:g.30384G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2634-45G>T MANE Select	ENSP00000343741.4:n.2634-45G>T
ENST00000515149.3:c.*1408-45G>T	ENSP00000425897.3:n.*1408-45G>T
ENST00000653868.1:n.2663-45G>T
ENST00000656590.1:c.1424-45G>T
ENST00000659195.1:n.5509-45G>T
ENST00000661310.1:c.2442-45G>T	ENSP00000499589.1:n.2442-45G>T
ENST00000350721.8:c.2634-45G>T	ENSP00000343741.4:n.2634-45G>T
NM_001184.3:c.2634-45G>T	NP_001175.2:n.2634-45G>T
XM_011512924.1:c.2634-45G>T	XP_011511226.1:n.2634-45G>T
XM_011512925.1:c.2442-45G>T	XP_011511227.1:n.2442-45G>T
XM_011512926.1:c.2634-45G>T	XP_011511228.1:n.2634-45G>T
XM_011512927.1:c.2634-45G>T	XP_011511229.1:n.2634-45G>T
XR_924147.1:n.2723-45G>T
XR_924148.1:n.2723-45G>T
XR_924149.1:n.2723-45G>T
NM_001354579.1:c.2442-45G>T	NP_001341508.1:n.2442-45G>T
XR_001740179.2:n.2723-45G>T
XR_001740180.2:n.2723-45G>T
XR_001740181.2:n.2723-45G>T
XR_001740182.1:n.2723-45G>T
XR_002959543.1:n.2723-45G>T
XR_924148.2:n.2723-45G>T
NM_001184.4:c.2634-45G>T MANE Select	NP_001175.2:n.2634-45G>T
NM_001354579.2:c.2442-45G>T	NP_001341508.1:n.2442-45G>T