Canonical Allele Identifier: CA354143399

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712396A>C (hg19) ; chr3:g.121993549A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993549A>C , CM000665.2:g.121993549A>C	GRCh38
NC_000003.11:g.121712396A>C , CM000665.1:g.121712396A>C	GRCh37
NC_000003.10:g.123195086A>C	NCBI36
NG_031870.1:g.33732T>G
NG_031870.2:g.72006T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1200T>G MANE Select	ENSP00000345667.5:p.Ser400Arg
ENST00000460554.2:n.1150T>G
ENST00000642615.1:c.*383T>G	ENSP00000495499.1:n.*383T>G
ENST00000273691.7:c.1068T>G	ENSP00000273691.3:p.Ser356Arg
ENST00000344209.9:c.1200T>G	ENSP00000345667.5:p.Ser400Arg
ENST00000393631.5:c.933T>G	ENSP00000377251.1:p.Ser311Arg
ENST00000460554.1:n.1302T>G
ENST00000462014.1:c.1104T>G	ENSP00000419414.1:p.Ser368Arg
NM_001199799.1:c.1200T>G	NP_001186728.1:p.Ser400Arg
NM_001199800.1:c.933T>G	NP_001186729.1:p.Ser311Arg
NM_175924.3:c.1068T>G	NP_787120.1:p.Ser356Arg
XM_005247389.3:c.1104T>G	XP_005247446.1:p.Ser368Arg
XM_011512738.1:c.1200T>G	XP_011511040.1:p.Ser400Arg
XM_011512739.1:c.663T>G	XP_011511041.1:p.Ser221Arg
XM_005247389.4:c.1104T>G	XP_005247446.1:p.Ser368Arg
XM_011512738.2:c.1200T>G	XP_011511040.1:p.Ser400Arg
XM_011512739.2:c.663T>G	XP_011511041.1:p.Ser221Arg
NM_001199799.2:c.1200T>G MANE Select	NP_001186728.1:p.Ser400Arg
NM_001199800.2:c.933T>G	NP_001186729.1:p.Ser311Arg
NM_175924.4:c.1068T>G	NP_787120.1:p.Ser356Arg