Canonical Allele Identifier: CA304896699
Gene: RETN HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7670411G>A
GRCh37 chr19:g.7735297G>A
gnomAD v2:
19:7735297 G / A
gnomAD v3:
19:7670411 G / A
gnomAD v4:
chr19-7670411-G-A
Joint Max Group AF 0.12899429 (AFR)
Genomes Max Group AF 0.14480883 (EAS)
Exomes Max Group AF 0.13074312 (AFR)
ClinVar RCV:
RCV000005160
RCV000005161
ClinVar Variation:
4884
dbSNP:
3745368
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7670411G>A , CM000681.2:g.7670411G>A GRCh38
NC_000019.9:g.7735297G>A , CM000681.1:g.7735297G>A GRCh37
NC_000019.8:g.7641297G>A NCBI36
NG_023447.1:g.6326G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221515.6:c.*62G>A MANE Select ENSP00000221515.1:n.*62G>A
ENST00000221515.5:c.*62G>A ENSP00000221515.1:n.*62G>A
ENST00000629642.1:c.*62G>A ENSP00000485998.1:n.*62G>A
NM_001193374.1:c.*62G>A NP_001180303.1:n.*62G>A
NM_020415.3:c.*62G>A NP_065148.1:n.*62G>A
NM_020415.4:c.*62G>A MANE Select NP_065148.1:n.*62G>A
NM_001193374.2:c.*62G>A NP_001180303.1:n.*62G>A
NM_001385725.1:c.*62G>A NP_001372654.1:n.*62G>A
NM_001385726.1:c.*62G>A NP_001372655.1:n.*62G>A
NM_001385727.1:c.*62G>A NP_001372656.1:n.*62G>A
Search 100 bp 5'
Search 100 bp 3'