Canonical Allele Identifier: CA2667221332

Gene: ILDR1

Linked Data

• gnomAD v4: 3-122022142-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022142T>C , CM000665.2:g.122022142T>C	GRCh38
NC_000003.11:g.121740989T>C , CM000665.1:g.121740989T>C	GRCh37
NC_000003.10:g.123223679T>C	NCBI36
NG_031870.1:g.5139A>G
NG_031870.2:g.43413A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.-65A>G MANE Select	ENSP00000345667.5:n.-65A>G
ENST00000642615.1:c.-65A>G	ENSP00000495499.1:n.-65A>G
ENST00000273691.7:c.-65A>G	ENSP00000273691.3:n.-65A>G
ENST00000344209.9:c.-65A>G	ENSP00000345667.5:n.-65A>G
ENST00000460554.1:n.57A>G
NM_001199799.1:c.-65A>G	NP_001186728.1:n.-65A>G
NM_001199800.1:c.-65A>G	NP_001186729.1:n.-65A>G
NM_175924.3:c.-65A>G	NP_787120.1:n.-65A>G
XM_011512738.1:c.-65A>G	XP_011511040.1:n.-65A>G
XM_011512739.1:c.-347-14981A>G	XP_011511041.1:n.-347-14981A>G
XM_011512738.2:c.-65A>G	XP_011511040.1:n.-65A>G
XM_011512739.2:c.-347-14981A>G	XP_011511041.1:n.-347-14981A>G
NM_001199799.2:c.-65A>G MANE Select	NP_001186728.1:n.-65A>G
NM_001199800.2:c.-65A>G	NP_001186729.1:n.-65A>G
NM_175924.4:c.-65A>G	NP_787120.1:n.-65A>G