Canonical Allele Identifier: CA403085464

Gene: RETN

Linked Data

• gnomAD v4: 19-7670312-A-C
• MyVariant Identifiers: chr19:g.7735198A>C (hg19) ; chr19:g.7670312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7670312A>C , CM000681.2:g.7670312A>C	GRCh38
NC_000019.9:g.7735198A>C , CM000681.1:g.7735198A>C	GRCh37
NC_000019.8:g.7641198A>C	NCBI36
NG_023447.1:g.6227A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221515.6:c.290A>C MANE Select	ENSP00000221515.1:p.Asp97Ala
ENST00000221515.5:c.290A>C	ENSP00000221515.1:p.Asp97Ala
ENST00000381324.2:c.212A>C	ENSP00000370725.2:p.Asp71Ala
ENST00000629642.1:c.212A>C	ENSP00000485998.1:p.Asp71Ala
NM_001193374.1:c.290A>C	NP_001180303.1:p.Asp97Ala
NM_020415.3:c.290A>C	NP_065148.1:p.Asp97Ala
NM_020415.4:c.290A>C MANE Select	NP_065148.1:p.Asp97Ala
NM_001193374.2:c.290A>C	NP_001180303.1:p.Asp97Ala
NM_001385725.1:c.290A>C	NP_001372654.1:p.Asp97Ala
NM_001385726.1:c.332A>C	NP_001372655.1:p.Asp111Ala
NM_001385727.1:c.212A>C	NP_001372656.1:p.Asp71Ala