Canonical Allele Identifier: CA82734431

Gene: ILDR1

Linked Data

• dbSNP Id: rs919839015
• gnomAD v4: 3-121993173-T-A
• MyVariant Identifiers: chr3:g.121712020T>A (hg19) ; chr3:g.121993173T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993173T>A , CM000665.2:g.121993173T>A	GRCh38
NC_000003.11:g.121712020T>A , CM000665.1:g.121712020T>A	GRCh37
NC_000003.10:g.123194710T>A	NCBI36
NG_031870.1:g.34108A>T
NG_031870.2:g.72382A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1576A>T MANE Select	ENSP00000345667.5:p.Lys526Ter
ENST00000460554.2:n.1526A>T
ENST00000642615.1:c.*759A>T	ENSP00000495499.1:n.*759A>T
ENST00000273691.7:c.1444A>T	ENSP00000273691.3:p.Lys482Ter
ENST00000344209.9:c.1576A>T	ENSP00000345667.5:p.Lys526Ter
ENST00000393631.5:c.1309A>T	ENSP00000377251.1:p.Lys437Ter
ENST00000460554.1:n.1678A>T
ENST00000462014.1:c.1480A>T	ENSP00000419414.1:p.Lys494Ter
NM_001199799.1:c.1576A>T	NP_001186728.1:p.Lys526Ter
NM_001199800.1:c.1309A>T	NP_001186729.1:p.Lys437Ter
NM_175924.3:c.1444A>T	NP_787120.1:p.Lys482Ter
XM_005247389.3:c.1480A>T	XP_005247446.1:p.Lys494Ter
XM_011512738.1:c.1558+18A>T	XP_011511040.1:n.1558+18A>T
XM_011512739.1:c.1039A>T	XP_011511041.1:p.Lys347Ter
XM_005247389.4:c.1480A>T	XP_005247446.1:p.Lys494Ter
XM_011512738.2:c.1558+18A>T	XP_011511040.1:n.1558+18A>T
XM_011512739.2:c.1039A>T	XP_011511041.1:p.Lys347Ter
NM_001199799.2:c.1576A>T MANE Select	NP_001186728.1:p.Lys526Ter
NM_001199800.2:c.1309A>T	NP_001186729.1:p.Lys437Ter
NM_175924.4:c.1444A>T	NP_787120.1:p.Lys482Ter