Canonical Allele Identifier: CA354805985

Gene: ATR

Linked Data

• dbSNP Id: rs1423459834
• gnomAD v4: 3-142470158-T-C
• MyVariant Identifiers: chr3:g.142189000T>C (hg19) ; chr3:g.142470158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470158T>C , CM000665.2:g.142470158T>C	GRCh38
NC_000003.11:g.142189000T>C , CM000665.1:g.142189000T>C	GRCh37
NC_000003.10:g.143671690T>C	NCBI36
NG_008951.1:g.113669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6247A>G MANE Select	ENSP00000343741.4:p.Ile2083Val
ENST00000513291.2:n.1431A>G
ENST00000654170.1:n.1090A>G
ENST00000656590.1:c.5037A>G
ENST00000661310.1:c.6055A>G	ENSP00000499589.1:p.Ile2019Val
ENST00000665483.1:n.102A>G
ENST00000666447.1:n.82A>G
ENST00000666943.1:n.1711A>G
ENST00000350721.8:c.6247A>G	ENSP00000343741.4:p.Ile2083Val
NM_001184.3:c.6247A>G	NP_001175.2:p.Ile2083Val
XM_011512924.1:c.6253A>G	XP_011511226.1:p.Ile2085Val
XM_011512925.1:c.6061A>G	XP_011511227.1:p.Ile2021Val
XR_924147.1:n.6342A>G
XR_924148.1:n.6342A>G
XR_924149.1:n.6221A>G
NM_001354579.1:c.6055A>G	NP_001341508.1:p.Ile2019Val
XR_001740179.2:n.6336A>G
XR_001740180.2:n.6390A>G
XR_001740181.2:n.6269A>G
XR_001740182.1:n.6221A>G
XR_002959543.1:n.6446A>G
XR_924148.2:n.6342A>G
NM_001184.4:c.6247A>G MANE Select	NP_001175.2:p.Ile2083Val
NM_001354579.2:c.6055A>G	NP_001341508.1:p.Ile2019Val