Canonical Allele Identifier: CA1052937590

Gene: ILDR1

Linked Data

• gnomAD v3: 3-121993146-T-C
• gnomAD v4: 3-121993146-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993146T>C , CM000665.2:g.121993146T>C	GRCh38
NC_000003.11:g.121711993T>C , CM000665.1:g.121711993T>C	GRCh37
NC_000003.10:g.123194683T>C	NCBI36
NG_031870.1:g.34135A>G
NG_031870.2:g.72409A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1599+4A>G MANE Select	ENSP00000345667.5:n.1599+4A>G
ENST00000460554.2:n.1549+4A>G
ENST00000642615.1:c.*782+4A>G	ENSP00000495499.1:n.*782+4A>G
ENST00000273691.7:c.1467+4A>G	ENSP00000273691.3:n.1467+4A>G
ENST00000344209.9:c.1599+4A>G	ENSP00000345667.5:n.1599+4A>G
ENST00000393631.5:c.1332+4A>G	ENSP00000377251.1:n.1332+4A>G
ENST00000462014.1:c.1503+4A>G	ENSP00000419414.1:n.1503+4A>G
NM_001199799.1:c.1599+4A>G	NP_001186728.1:n.1599+4A>G
NM_001199800.1:c.1332+4A>G	NP_001186729.1:n.1332+4A>G
NM_175924.3:c.1467+4A>G	NP_787120.1:n.1467+4A>G
XM_005247389.3:c.1503+4A>G	XP_005247446.1:n.1503+4A>G
XM_011512738.1:c.1558+45A>G	XP_011511040.1:n.1558+45A>G
XM_011512739.1:c.1062+4A>G	XP_011511041.1:n.1062+4A>G
XM_005247389.4:c.1503+4A>G	XP_005247446.1:n.1503+4A>G
XM_011512738.2:c.1558+45A>G	XP_011511040.1:n.1558+45A>G
XM_011512739.2:c.1062+4A>G	XP_011511041.1:n.1062+4A>G
NM_001199799.2:c.1599+4A>G MANE Select	NP_001186728.1:n.1599+4A>G
NM_001199800.2:c.1332+4A>G	NP_001186729.1:n.1332+4A>G
NM_175924.4:c.1467+4A>G	NP_787120.1:n.1467+4A>G