Canonical Allele Identifier: CA2668039001

Gene: ATR

Linked Data

• gnomAD v4: 3-142469212-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142469212A>T , CM000665.2:g.142469212A>T	GRCh38
NC_000003.11:g.142188054A>T , CM000665.1:g.142188054A>T	GRCh37
NC_000003.10:g.143670744A>T	NCBI36
NG_008951.1:g.114615T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6552+125T>A MANE Select	ENSP00000343741.4:n.6552+125T>A
ENST00000513291.2:n.1736+125T>A
ENST00000654170.1:n.1395+125T>A
ENST00000656590.1:c.5342+125T>A
ENST00000661310.1:c.6360+125T>A	ENSP00000499589.1:n.6360+125T>A
ENST00000665483.1:n.407+125T>A
ENST00000666447.1:n.512T>A
ENST00000666943.1:n.2141T>A
ENST00000350721.8:c.6552+125T>A	ENSP00000343741.4:n.6552+125T>A
ENST00000513291.1:c.91+125T>A
NM_001184.3:c.6552+125T>A	NP_001175.2:n.6552+125T>A
XM_011512924.1:c.6558+125T>A	XP_011511226.1:n.6558+125T>A
XM_011512925.1:c.6366+125T>A	XP_011511227.1:n.6366+125T>A
XR_924147.1:n.6647+125T>A
XR_924148.1:n.6647+125T>A
XR_924149.1:n.6526+125T>A
NM_001354579.1:c.6360+125T>A	NP_001341508.1:n.6360+125T>A
XR_001740179.2:n.6641+125T>A
XR_924148.2:n.6647+125T>A
NM_001184.4:c.6552+125T>A MANE Select	NP_001175.2:n.6552+125T>A
NM_001354579.2:c.6360+125T>A	NP_001341508.1:n.6360+125T>A