Canonical Allele Identifier: CA403085509

Gene: RETN

Linked Data

• gnomAD v4: 19-7670324-C-G
• MyVariant Identifiers: chr19:g.7735210C>G (hg19) ; chr19:g.7670324C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000221515.6:c.302C>G MANE Select	ENSP00000221515.1:p.Ala101Gly
ENST00000221515.5:c.302C>G	ENSP00000221515.1:p.Ala101Gly
ENST00000381324.2:c.224C>G	ENSP00000370725.2:p.Ala75Gly
ENST00000629642.1:c.224C>G	ENSP00000485998.1:p.Ala75Gly
NM_001193374.1:c.302C>G	NP_001180303.1:p.Ala101Gly
NM_020415.3:c.302C>G	NP_065148.1:p.Ala101Gly
NM_020415.4:c.302C>G MANE Select	NP_065148.1:p.Ala101Gly
NM_001193374.2:c.302C>G	NP_001180303.1:p.Ala101Gly
NM_001385725.1:c.302C>G	NP_001372654.1:p.Ala101Gly
NM_001385726.1:c.344C>G	NP_001372655.1:p.Ala115Gly
NM_001385727.1:c.224C>G	NP_001372656.1:p.Ala75Gly