Canonical Allele Identifier: CA2667221354

Gene: ILDR1

Linked Data

• gnomAD v4: 3-122022170-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022170A>C , CM000665.2:g.122022170A>C	GRCh38
NC_000003.11:g.121741017A>C , CM000665.1:g.121741017A>C	GRCh37
NC_000003.10:g.123223707A>C	NCBI36
NG_031870.1:g.5111T>G
NG_031870.2:g.43385T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.-93T>G MANE Select	ENSP00000345667.5:n.-93T>G
ENST00000642615.1:c.-93T>G	ENSP00000495499.1:n.-93T>G
ENST00000273691.7:c.-93T>G	ENSP00000273691.3:n.-93T>G
ENST00000344209.9:c.-93T>G	ENSP00000345667.5:n.-93T>G
ENST00000460554.1:n.29T>G
NM_001199799.1:c.-93T>G	NP_001186728.1:n.-93T>G
NM_001199800.1:c.-93T>G	NP_001186729.1:n.-93T>G
NM_175924.3:c.-93T>G	NP_787120.1:n.-93T>G
XM_011512738.1:c.-93T>G	XP_011511040.1:n.-93T>G
XM_011512739.1:c.-347-15009T>G	XP_011511041.1:n.-347-15009T>G
XM_011512738.2:c.-93T>G	XP_011511040.1:n.-93T>G
XM_011512739.2:c.-347-15009T>G	XP_011511041.1:n.-347-15009T>G
NM_001199799.2:c.-93T>G MANE Select	NP_001186728.1:n.-93T>G
NM_001199800.2:c.-93T>G	NP_001186729.1:n.-93T>G
NM_175924.4:c.-93T>G	NP_787120.1:n.-93T>G