Canonical Allele Identifier: CA403085508
Gene: RETN HGNC NCBI

Linked Data

gnomAD v4: 19-7670324-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7670324C>A , CM000681.2:g.7670324C>A GRCh38
NC_000019.9:g.7735210C>A , CM000681.1:g.7735210C>A GRCh37
NC_000019.8:g.7641210C>A NCBI36
NG_023447.1:g.6239C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221515.6:c.302C>A MANE Select ENSP00000221515.1:p.Ala101Glu
ENST00000221515.5:c.302C>A ENSP00000221515.1:p.Ala101Glu
ENST00000381324.2:c.224C>A ENSP00000370725.2:p.Ala75Glu
ENST00000629642.1:c.224C>A ENSP00000485998.1:p.Ala75Glu
NM_001193374.1:c.302C>A NP_001180303.1:p.Ala101Glu
NM_020415.3:c.302C>A NP_065148.1:p.Ala101Glu
NM_020415.4:c.302C>A MANE Select NP_065148.1:p.Ala101Glu
NM_001193374.2:c.302C>A NP_001180303.1:p.Ala101Glu
NM_001385725.1:c.302C>A NP_001372654.1:p.Ala101Glu
NM_001385726.1:c.344C>A NP_001372655.1:p.Ala115Glu
NM_001385727.1:c.224C>A NP_001372656.1:p.Ala75Glu