Canonical Allele Identifier: CA354143983

Gene: ILDR1

Linked Data

• dbSNP Id: rs1576715260
• MyVariant Identifiers: chr3:g.121712533T>G (hg19) ; chr3:g.121993686T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993686T>G , CM000665.2:g.121993686T>G	GRCh38
NC_000003.11:g.121712533T>G , CM000665.1:g.121712533T>G	GRCh37
NC_000003.10:g.123195223T>G	NCBI36
NG_031870.1:g.33595A>C
NG_031870.2:g.71869A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1063A>C MANE Select	ENSP00000345667.5:p.Thr355Pro
ENST00000460554.2:n.1013A>C
ENST00000642615.1:c.*246A>C	ENSP00000495499.1:n.*246A>C
ENST00000273691.7:c.931A>C	ENSP00000273691.3:p.Thr311Pro
ENST00000344209.9:c.1063A>C	ENSP00000345667.5:p.Thr355Pro
ENST00000393631.5:c.796A>C	ENSP00000377251.1:p.Thr266Pro
ENST00000460554.1:n.1165A>C
ENST00000462014.1:c.967A>C	ENSP00000419414.1:p.Thr323Pro
NM_001199799.1:c.1063A>C	NP_001186728.1:p.Thr355Pro
NM_001199800.1:c.796A>C	NP_001186729.1:p.Thr266Pro
NM_175924.3:c.931A>C	NP_787120.1:p.Thr311Pro
XM_005247389.3:c.967A>C	XP_005247446.1:p.Thr323Pro
XM_011512738.1:c.1063A>C	XP_011511040.1:p.Thr355Pro
XM_011512739.1:c.526A>C	XP_011511041.1:p.Thr176Pro
XM_005247389.4:c.967A>C	XP_005247446.1:p.Thr323Pro
XM_011512738.2:c.1063A>C	XP_011511040.1:p.Thr355Pro
XM_011512739.2:c.526A>C	XP_011511041.1:p.Thr176Pro
NM_001199799.2:c.1063A>C MANE Select	NP_001186728.1:p.Thr355Pro
NM_001199800.2:c.796A>C	NP_001186729.1:p.Thr266Pro
NM_175924.4:c.931A>C	NP_787120.1:p.Thr311Pro