Canonical Allele Identifier: CA14730177
Gene: RETN HGNC NCBI

Linked Data

dbSNP Id: rs3745367
gnomAD v2: 19-7734511-G-A
gnomAD v3: 19-7669625-G-A
gnomAD v4: 19-7669625-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7669625G>A , CM000681.2:g.7669625G>A GRCh38
NC_000019.9:g.7734511G>A , CM000681.1:g.7734511G>A GRCh37
NC_000019.8:g.7640511G>A NCBI36
NG_023447.1:g.5540G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221515.6:c.118+181G>A MANE Select ENSP00000221515.1:n.118+181G>A
ENST00000221515.5:c.118+181G>A ENSP00000221515.1:n.118+181G>A
ENST00000381324.2:c.118+181G>A ENSP00000370725.2:n.118+181G>A
ENST00000629642.1:c.118+181G>A ENSP00000485998.1:n.118+181G>A
NM_001193374.1:c.118+181G>A NP_001180303.1:n.118+181G>A
NM_020415.3:c.118+181G>A NP_065148.1:n.118+181G>A
NM_020415.4:c.118+181G>A MANE Select NP_065148.1:n.118+181G>A
NM_001193374.2:c.118+181G>A NP_001180303.1:n.118+181G>A
NM_001385725.1:c.118+181G>A NP_001372654.1:n.118+181G>A
NM_001385726.1:c.118+181G>A NP_001372655.1:n.118+181G>A
NM_001385727.1:c.118+181G>A NP_001372656.1:n.118+181G>A