Canonical Allele Identifier: CA354143996

Gene: ILDR1

Linked Data

• dbSNP Id: rs2071391922
• gnomAD v4: 3-121993691-C-T
• MyVariant Identifiers: chr3:g.121712538C>T (hg19) ; chr3:g.121993691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993691C>T , CM000665.2:g.121993691C>T	GRCh38
NC_000003.11:g.121712538C>T , CM000665.1:g.121712538C>T	GRCh37
NC_000003.10:g.123195228C>T	NCBI36
NG_031870.1:g.33590G>A
NG_031870.2:g.71864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1058G>A MANE Select	ENSP00000345667.5:p.Trp353Ter
ENST00000460554.2:n.1008G>A
ENST00000642615.1:c.*241G>A	ENSP00000495499.1:n.*241G>A
ENST00000273691.7:c.926G>A	ENSP00000273691.3:p.Trp309Ter
ENST00000344209.9:c.1058G>A	ENSP00000345667.5:p.Trp353Ter
ENST00000393631.5:c.791G>A	ENSP00000377251.1:p.Trp264Ter
ENST00000460554.1:n.1160G>A
ENST00000462014.1:c.962G>A	ENSP00000419414.1:p.Trp321Ter
NM_001199799.1:c.1058G>A	NP_001186728.1:p.Trp353Ter
NM_001199800.1:c.791G>A	NP_001186729.1:p.Trp264Ter
NM_175924.3:c.926G>A	NP_787120.1:p.Trp309Ter
XM_005247389.3:c.962G>A	XP_005247446.1:p.Trp321Ter
XM_011512738.1:c.1058G>A	XP_011511040.1:p.Trp353Ter
XM_011512739.1:c.521G>A	XP_011511041.1:p.Trp174Ter
XM_005247389.4:c.962G>A	XP_005247446.1:p.Trp321Ter
XM_011512738.2:c.1058G>A	XP_011511040.1:p.Trp353Ter
XM_011512739.2:c.521G>A	XP_011511041.1:p.Trp174Ter
NM_001199799.2:c.1058G>A MANE Select	NP_001186728.1:p.Trp353Ter
NM_001199800.2:c.791G>A	NP_001186729.1:p.Trp264Ter
NM_175924.4:c.926G>A	NP_787120.1:p.Trp309Ter