Canonical Allele Identifier: CA9144482

Gene: RETN

Linked Data

• dbSNP Id: rs545857396
• ExAC: 19:7735205 C / T
• gnomAD v2: 19-7735205-C-T
• gnomAD v3: 19-7670319-C-T
• gnomAD v4: 19-7670319-C-T
• MyVariant Identifiers: chr19:g.7735205C>T (hg19) ; chr19:g.7670319C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7670319C>T , CM000681.2:g.7670319C>T	GRCh38
NC_000019.9:g.7735205C>T , CM000681.1:g.7735205C>T	GRCh37
NC_000019.8:g.7641205C>T	NCBI36
NG_023447.1:g.6234C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221515.6:c.297C>T MANE Select	ENSP00000221515.1:p.Thr99=
ENST00000221515.5:c.297C>T	ENSP00000221515.1:p.Thr99=
ENST00000381324.2:c.219C>T	ENSP00000370725.2:p.Thr73=
ENST00000629642.1:c.219C>T	ENSP00000485998.1:p.Thr73=
NM_001193374.1:c.297C>T	NP_001180303.1:p.Thr99=
NM_020415.3:c.297C>T	NP_065148.1:p.Thr99=
NM_020415.4:c.297C>T MANE Select	NP_065148.1:p.Thr99=
NM_001193374.2:c.297C>T	NP_001180303.1:p.Thr99=
NM_001385725.1:c.297C>T	NP_001372654.1:p.Thr99=
NM_001385726.1:c.339C>T	NP_001372655.1:p.Thr113=
NM_001385727.1:c.219C>T	NP_001372656.1:p.Thr73=