Canonical Allele Identifier: CA337437934
Gene: RNASEH2CP1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.2790230G>A
GRCh37 chrY:g.2658271G>A
gnomAD v3:
Y:2790230 G / A
gnomAD v4:
chrY-2790230-G-A
Joint Max Group AF 0.02233728 (AMR)
Genomes Max Group AF 0.02242348 (AMR)
Exomes Max Group AF 0.01153857 (AMR)
dbSNP:
1800865
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2790230G>A , CM000686.2:g.2790230G>A GRCh38
NC_000024.9:g.2658271G>A , CM000686.1:g.2658271G>A GRCh37
NC_000024.8:g.2718271G>A NCBI36
NG_011751.1:g.2522C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+15491G>A
ENST00000680285.1:n.801G>A
ENST00000681787.1:n.106+15491G>A
ENST00000681940.1:n.106+15491G>A
ENST00000454281.1:n.404G>A
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