Canonical Allele Identifier: CA354144022

Gene: ILDR1

Linked Data

• dbSNP Id: rs2071392189
• MyVariant Identifiers: chr3:g.121712550A>C (hg19) ; chr3:g.121993703A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993703A>C , CM000665.2:g.121993703A>C	GRCh38
NC_000003.11:g.121712550A>C , CM000665.1:g.121712550A>C	GRCh37
NC_000003.10:g.123195240A>C	NCBI36
NG_031870.1:g.33578T>G
NG_031870.2:g.71852T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1046T>G MANE Select	ENSP00000345667.5:p.Leu349Arg
ENST00000460554.2:n.996T>G
ENST00000642615.1:c.*229T>G	ENSP00000495499.1:n.*229T>G
ENST00000273691.7:c.914T>G	ENSP00000273691.3:p.Leu305Arg
ENST00000344209.9:c.1046T>G	ENSP00000345667.5:p.Leu349Arg
ENST00000393631.5:c.779T>G	ENSP00000377251.1:p.Leu260Arg
ENST00000460554.1:n.1148T>G
ENST00000462014.1:c.950T>G	ENSP00000419414.1:p.Leu317Arg
NM_001199799.1:c.1046T>G	NP_001186728.1:p.Leu349Arg
NM_001199800.1:c.779T>G	NP_001186729.1:p.Leu260Arg
NM_175924.3:c.914T>G	NP_787120.1:p.Leu305Arg
XM_005247389.3:c.950T>G	XP_005247446.1:p.Leu317Arg
XM_011512738.1:c.1046T>G	XP_011511040.1:p.Leu349Arg
XM_011512739.1:c.509T>G	XP_011511041.1:p.Leu170Arg
XM_005247389.4:c.950T>G	XP_005247446.1:p.Leu317Arg
XM_011512738.2:c.1046T>G	XP_011511040.1:p.Leu349Arg
XM_011512739.2:c.509T>G	XP_011511041.1:p.Leu170Arg
NM_001199799.2:c.1046T>G MANE Select	NP_001186728.1:p.Leu349Arg
NM_001199800.2:c.779T>G	NP_001186729.1:p.Leu260Arg
NM_175924.4:c.914T>G	NP_787120.1:p.Leu305Arg