Canonical Allele Identifier: CA354141755

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993161-C-A
• MyVariant Identifiers: chr3:g.121712008C>A (hg19) ; chr3:g.121993161C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993161C>A , CM000665.2:g.121993161C>A	GRCh38
NC_000003.11:g.121712008C>A , CM000665.1:g.121712008C>A	GRCh37
NC_000003.10:g.123194698C>A	NCBI36
NG_031870.1:g.34120G>T
NG_031870.2:g.72394G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1588G>T MANE Select	ENSP00000345667.5:p.Glu530Ter
ENST00000460554.2:n.1538G>T
ENST00000642615.1:c.*771G>T	ENSP00000495499.1:n.*771G>T
ENST00000273691.7:c.1456G>T	ENSP00000273691.3:p.Glu486Ter
ENST00000344209.9:c.1588G>T	ENSP00000345667.5:p.Glu530Ter
ENST00000393631.5:c.1321G>T	ENSP00000377251.1:p.Glu441Ter
ENST00000460554.1:n.1690G>T
ENST00000462014.1:c.1492G>T	ENSP00000419414.1:p.Glu498Ter
NM_001199799.1:c.1588G>T	NP_001186728.1:p.Glu530Ter
NM_001199800.1:c.1321G>T	NP_001186729.1:p.Glu441Ter
NM_175924.3:c.1456G>T	NP_787120.1:p.Glu486Ter
XM_005247389.3:c.1492G>T	XP_005247446.1:p.Glu498Ter
XM_011512738.1:c.1558+30G>T	XP_011511040.1:n.1558+30G>T
XM_011512739.1:c.1051G>T	XP_011511041.1:p.Glu351Ter
XM_005247389.4:c.1492G>T	XP_005247446.1:p.Glu498Ter
XM_011512738.2:c.1558+30G>T	XP_011511040.1:n.1558+30G>T
XM_011512739.2:c.1051G>T	XP_011511041.1:p.Glu351Ter
NM_001199799.2:c.1588G>T MANE Select	NP_001186728.1:p.Glu530Ter
NM_001199800.2:c.1321G>T	NP_001186729.1:p.Glu441Ter
NM_175924.4:c.1456G>T	NP_787120.1:p.Glu486Ter