Canonical Allele Identifier: CA13407266
Gene: RRM1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.4094744C>A
GRCh37 chr11:g.4115974C>A
gnomAD v2:
11:4115974 C / A
gnomAD v3:
11:4094744 C / A
gnomAD v4:
chr11-4094744-C-A
Joint Max Group AF 0.3798754 (SAS)
Genomes Max Group AF 0.36280709 (SAS)
Exomes Max Group AF 0.3804604 (SAS)
dbSNP:
12806698
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4094744C>A , CM000673.2:g.4094744C>A GRCh38
NC_000011.9:g.4115974C>A , CM000673.1:g.4115974C>A GRCh37
NC_000011.8:g.4072550C>A NCBI36
NG_016277.1:g.244042C>A , LRG_164:g.244042C>A
NG_027992.2:g.5051C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000532710.5:n.38C>A
NM_001033.3:c.-269C>A NP_001024.1:n.-269C>A
XM_011520277.1:c.-382C>A XP_011518579.1:n.-382C>A
NM_001033.4:c.-269C>A NP_001024.1:n.-269C>A
NM_001318064.1:c.-382C>A NP_001304993.1:n.-382C>A
Search 100 bp 5'
Search 100 bp 3'