Canonical Allele Identifier: CA1052930743

Gene: ILDR1

Linked Data

• dbSNP Id: rs1394336553
• gnomAD v3: 3-122022132-C-A
• gnomAD v4: 3-122022132-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022132C>A , CM000665.2:g.122022132C>A	GRCh38
NC_000003.11:g.121740979C>A , CM000665.1:g.121740979C>A	GRCh37
NC_000003.10:g.123223669C>A	NCBI36
NG_031870.1:g.5149G>T
NG_031870.2:g.43423G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.-55G>T MANE Select	ENSP00000345667.5:n.-55G>T
ENST00000642615.1:c.-55G>T	ENSP00000495499.1:n.-55G>T
ENST00000273691.7:c.-55G>T	ENSP00000273691.3:n.-55G>T
ENST00000344209.9:c.-55G>T	ENSP00000345667.5:n.-55G>T
ENST00000460554.1:n.67G>T
NM_001199799.1:c.-55G>T	NP_001186728.1:n.-55G>T
NM_001199800.1:c.-55G>T	NP_001186729.1:n.-55G>T
NM_175924.3:c.-55G>T	NP_787120.1:n.-55G>T
XM_011512738.1:c.-55G>T	XP_011511040.1:n.-55G>T
XM_011512739.1:c.-347-14971G>T	XP_011511041.1:n.-347-14971G>T
XM_011512738.2:c.-55G>T	XP_011511040.1:n.-55G>T
XM_011512739.2:c.-347-14971G>T	XP_011511041.1:n.-347-14971G>T
NM_001199799.2:c.-55G>T MANE Select	NP_001186728.1:n.-55G>T
NM_001199800.2:c.-55G>T	NP_001186729.1:n.-55G>T
NM_175924.4:c.-55G>T	NP_787120.1:n.-55G>T