Canonical Allele Identifier: CA9144483

Gene: RETN

Linked Data

• dbSNP Id: rs769389061
• ExAC: 19:7735207 G / A
• gnomAD v2: 19-7735207-G-A
• gnomAD v4: 19-7670321-G-A
• MyVariant Identifiers: chr19:g.7735207G>A (hg19) ; chr19:g.7670321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7670321G>A , CM000681.2:g.7670321G>A	GRCh38
NC_000019.9:g.7735207G>A , CM000681.1:g.7735207G>A	GRCh37
NC_000019.8:g.7641207G>A	NCBI36
NG_023447.1:g.6236G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000221515.6:c.299G>A MANE Select	ENSP00000221515.1:p.Gly100Glu
ENST00000221515.5:c.299G>A	ENSP00000221515.1:p.Gly100Glu
ENST00000381324.2:c.221G>A	ENSP00000370725.2:p.Gly74Glu
ENST00000629642.1:c.221G>A	ENSP00000485998.1:p.Gly74Glu
NM_001193374.1:c.299G>A	NP_001180303.1:p.Gly100Glu
NM_020415.3:c.299G>A	NP_065148.1:p.Gly100Glu
NM_020415.4:c.299G>A MANE Select	NP_065148.1:p.Gly100Glu
NM_001193374.2:c.299G>A	NP_001180303.1:p.Gly100Glu
NM_001385725.1:c.299G>A	NP_001372654.1:p.Gly100Glu
NM_001385726.1:c.341G>A	NP_001372655.1:p.Gly114Glu
NM_001385727.1:c.221G>A	NP_001372656.1:p.Gly74Glu