Canonical Allele Identifier: CA2667222081

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993138-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993138C>A , CM000665.2:g.121993138C>A	GRCh38
NC_000003.11:g.121711985C>A , CM000665.1:g.121711985C>A	GRCh37
NC_000003.10:g.123194675C>A	NCBI36
NG_031870.1:g.34143G>T
NG_031870.2:g.72417G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1599+12G>T MANE Select	ENSP00000345667.5:n.1599+12G>T
ENST00000460554.2:n.1549+12G>T
ENST00000642615.1:c.*782+12G>T	ENSP00000495499.1:n.*782+12G>T
ENST00000273691.7:c.1467+12G>T	ENSP00000273691.3:n.1467+12G>T
ENST00000344209.9:c.1599+12G>T	ENSP00000345667.5:n.1599+12G>T
ENST00000393631.5:c.1332+12G>T	ENSP00000377251.1:n.1332+12G>T
ENST00000462014.1:c.1503+12G>T	ENSP00000419414.1:n.1503+12G>T
NM_001199799.1:c.1599+12G>T	NP_001186728.1:n.1599+12G>T
NM_001199800.1:c.1332+12G>T	NP_001186729.1:n.1332+12G>T
NM_175924.3:c.1467+12G>T	NP_787120.1:n.1467+12G>T
XM_005247389.3:c.1503+12G>T	XP_005247446.1:n.1503+12G>T
XM_011512738.1:c.1558+53G>T	XP_011511040.1:n.1558+53G>T
XM_011512739.1:c.1062+12G>T	XP_011511041.1:n.1062+12G>T
XM_005247389.4:c.1503+12G>T	XP_005247446.1:n.1503+12G>T
XM_011512738.2:c.1558+53G>T	XP_011511040.1:n.1558+53G>T
XM_011512739.2:c.1062+12G>T	XP_011511041.1:n.1062+12G>T
NM_001199799.2:c.1599+12G>T MANE Select	NP_001186728.1:n.1599+12G>T
NM_001199800.2:c.1332+12G>T	NP_001186729.1:n.1332+12G>T
NM_175924.4:c.1467+12G>T	NP_787120.1:n.1467+12G>T