Canonical Allele Identifier: CA2667221333

Gene: ILDR1

Linked Data

• gnomAD v4: 3-122022143-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022143G>T , CM000665.2:g.122022143G>T	GRCh38
NC_000003.11:g.121740990G>T , CM000665.1:g.121740990G>T	GRCh37
NC_000003.10:g.123223680G>T	NCBI36
NG_031870.1:g.5138C>A
NG_031870.2:g.43412C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.-66C>A MANE Select	ENSP00000345667.5:n.-66C>A
ENST00000642615.1:c.-66C>A	ENSP00000495499.1:n.-66C>A
ENST00000273691.7:c.-66C>A	ENSP00000273691.3:n.-66C>A
ENST00000344209.9:c.-66C>A	ENSP00000345667.5:n.-66C>A
ENST00000460554.1:n.56C>A
NM_001199799.1:c.-66C>A	NP_001186728.1:n.-66C>A
NM_001199800.1:c.-66C>A	NP_001186729.1:n.-66C>A
NM_175924.3:c.-66C>A	NP_787120.1:n.-66C>A
XM_011512738.1:c.-66C>A	XP_011511040.1:n.-66C>A
XM_011512739.1:c.-347-14982C>A	XP_011511041.1:n.-347-14982C>A
XM_011512738.2:c.-66C>A	XP_011511040.1:n.-66C>A
XM_011512739.2:c.-347-14982C>A	XP_011511041.1:n.-347-14982C>A
NM_001199799.2:c.-66C>A MANE Select	NP_001186728.1:n.-66C>A
NM_001199800.2:c.-66C>A	NP_001186729.1:n.-66C>A
NM_175924.4:c.-66C>A	NP_787120.1:n.-66C>A