Canonical Allele Identifier: CA354805834

Gene: ATR

Linked Data

• dbSNP Id: rs1480463477
• gnomAD v2: 3-142188986-C-T
• gnomAD v4: 3-142470144-C-T
• MyVariant Identifiers: chr3:g.142188986C>T (hg19) ; chr3:g.142470144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470144C>T , CM000665.2:g.142470144C>T	GRCh38
NC_000003.11:g.142188986C>T , CM000665.1:g.142188986C>T	GRCh37
NC_000003.10:g.143671676C>T	NCBI36
NG_008951.1:g.113683G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.6261G>A MANE Select	ENSP00000343741.4:p.Met2087Ile
ENST00000513291.2:n.1445G>A
ENST00000654170.1:n.1104G>A
ENST00000656590.1:c.5051G>A
ENST00000661310.1:c.6069G>A	ENSP00000499589.1:p.Met2023Ile
ENST00000665483.1:n.116G>A
ENST00000666447.1:n.96G>A
ENST00000666943.1:n.1725G>A
ENST00000350721.8:c.6261G>A	ENSP00000343741.4:p.Met2087Ile
NM_001184.3:c.6261G>A	NP_001175.2:p.Met2087Ile
XM_011512924.1:c.6267G>A	XP_011511226.1:p.Met2089Ile
XM_011512925.1:c.6075G>A	XP_011511227.1:p.Met2025Ile
XR_924147.1:n.6356G>A
XR_924148.1:n.6356G>A
XR_924149.1:n.6235G>A
NM_001354579.1:c.6069G>A	NP_001341508.1:p.Met2023Ile
XR_001740179.2:n.6350G>A
XR_001740180.2:n.6404G>A
XR_001740181.2:n.6283G>A
XR_001740182.1:n.6235G>A
XR_002959543.1:n.6460G>A
XR_924148.2:n.6356G>A
NM_001184.4:c.6261G>A MANE Select	NP_001175.2:p.Met2087Ile
NM_001354579.2:c.6069G>A	NP_001341508.1:p.Met2023Ile