Canonical Allele Identifier: CA403085476
Gene: RETN HGNC NCBI

Linked Data

gnomAD v4: 19-7670315-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7670315G>A , CM000681.2:g.7670315G>A GRCh38
NC_000019.9:g.7735201G>A , CM000681.1:g.7735201G>A GRCh37
NC_000019.8:g.7641201G>A NCBI36
NG_023447.1:g.6230G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221515.6:c.293G>A MANE Select ENSP00000221515.1:p.Trp98Ter
ENST00000221515.5:c.293G>A ENSP00000221515.1:p.Trp98Ter
ENST00000381324.2:c.215G>A ENSP00000370725.2:p.Trp72Ter
ENST00000629642.1:c.215G>A ENSP00000485998.1:p.Trp72Ter
NM_001193374.1:c.293G>A NP_001180303.1:p.Trp98Ter
NM_020415.3:c.293G>A NP_065148.1:p.Trp98Ter
NM_020415.4:c.293G>A MANE Select NP_065148.1:p.Trp98Ter
NM_001193374.2:c.293G>A NP_001180303.1:p.Trp98Ter
NM_001385725.1:c.293G>A NP_001372654.1:p.Trp98Ter
NM_001385726.1:c.335G>A NP_001372655.1:p.Trp112Ter
NM_001385727.1:c.215G>A NP_001372656.1:p.Trp72Ter