Canonical Allele Identifier: CA435423834

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712405T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993558T>G , CM000665.2:g.121993558T>G	GRCh38
NC_000003.11:g.121712405T>G , CM000665.1:g.121712405T>G	GRCh37
NC_000003.10:g.123195095T>G	NCBI36
NG_031870.1:g.33723A>C
NG_031870.2:g.71997A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1191A>C MANE Select	ENSP00000345667.5:p.Pro397=
ENST00000460554.2:n.1141A>C
ENST00000642615.1:c.*374A>C	ENSP00000495499.1:n.*374A>C
ENST00000273691.7:c.1059A>C	ENSP00000273691.3:p.Pro353=
ENST00000344209.9:c.1191A>C	ENSP00000345667.5:p.Pro397=
ENST00000393631.5:c.924A>C	ENSP00000377251.1:p.Pro308=
ENST00000460554.1:n.1293A>C
ENST00000462014.1:c.1095A>C	ENSP00000419414.1:p.Pro365=
NM_001199799.1:c.1191A>C	NP_001186728.1:p.Pro397=
NM_001199800.1:c.924A>C	NP_001186729.1:p.Pro308=
NM_175924.3:c.1059A>C	NP_787120.1:p.Pro353=
XM_005247389.3:c.1095A>C	XP_005247446.1:p.Pro365=
XM_011512738.1:c.1191A>C	XP_011511040.1:p.Pro397=
XM_011512739.1:c.654A>C	XP_011511041.1:p.Pro218=
XM_005247389.4:c.1095A>C	XP_005247446.1:p.Pro365=
XM_011512738.2:c.1191A>C	XP_011511040.1:p.Pro397=
XM_011512739.2:c.654A>C	XP_011511041.1:p.Pro218=
NM_001199799.2:c.1191A>C MANE Select	NP_001186728.1:p.Pro397=
NM_001199800.2:c.924A>C	NP_001186729.1:p.Pro308=
NM_175924.4:c.1059A>C	NP_787120.1:p.Pro353=