Canonical Allele Identifier: CA403085482

Gene: RETN

Linked Data

• gnomAD v4: 19-7670316-G-T
• MyVariant Identifiers: chr19:g.7735202G>T (hg19) ; chr19:g.7670316G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7670316G>T , CM000681.2:g.7670316G>T	GRCh38
NC_000019.9:g.7735202G>T , CM000681.1:g.7735202G>T	GRCh37
NC_000019.8:g.7641202G>T	NCBI36
NG_023447.1:g.6231G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221515.6:c.294G>T MANE Select	ENSP00000221515.1:p.Trp98Cys
ENST00000221515.5:c.294G>T	ENSP00000221515.1:p.Trp98Cys
ENST00000381324.2:c.216G>T	ENSP00000370725.2:p.Trp72Cys
ENST00000629642.1:c.216G>T	ENSP00000485998.1:p.Trp72Cys
NM_001193374.1:c.294G>T	NP_001180303.1:p.Trp98Cys
NM_020415.3:c.294G>T	NP_065148.1:p.Trp98Cys
NM_020415.4:c.294G>T MANE Select	NP_065148.1:p.Trp98Cys
NM_001193374.2:c.294G>T	NP_001180303.1:p.Trp98Cys
NM_001385725.1:c.294G>T	NP_001372654.1:p.Trp98Cys
NM_001385726.1:c.336G>T	NP_001372655.1:p.Trp112Cys
NM_001385727.1:c.216G>T	NP_001372656.1:p.Trp72Cys