Canonical Allele Identifier: CA2569079

Gene: ILDR1

Linked Data

• dbSNP Id: rs763716918
• ExAC: 3:121740842 T / G
• gnomAD v2: 3-121740842-T-G
• gnomAD v4: 3-122021995-T-G
• MyVariant Identifiers: chr3:g.121740842T>G (hg19) ; chr3:g.122021995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122021995T>G , CM000665.2:g.122021995T>G	GRCh38
NC_000003.11:g.121740842T>G , CM000665.1:g.121740842T>G	GRCh37
NC_000003.10:g.123223532T>G	NCBI36
NG_031870.1:g.5286A>C
NG_031870.2:g.43560A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.58+25A>C MANE Select	ENSP00000345667.5:n.58+25A>C
ENST00000642615.1:c.58+25A>C	ENSP00000495499.1:n.58+25A>C
ENST00000273691.7:c.58+25A>C	ENSP00000273691.3:n.58+25A>C
ENST00000344209.9:c.58+25A>C	ENSP00000345667.5:n.58+25A>C
ENST00000393631.5:c.58+25A>C	ENSP00000377251.1:n.58+25A>C
ENST00000460554.1:n.179+25A>C
NM_001199799.1:c.58+25A>C	NP_001186728.1:n.58+25A>C
NM_001199800.1:c.58+25A>C	NP_001186729.1:n.58+25A>C
NM_175924.3:c.58+25A>C	NP_787120.1:n.58+25A>C
XM_011512738.1:c.58+25A>C	XP_011511040.1:n.58+25A>C
XM_011512739.1:c.-347-14834A>C	XP_011511041.1:n.-347-14834A>C
XM_011512738.2:c.58+25A>C	XP_011511040.1:n.58+25A>C
XM_011512739.2:c.-347-14834A>C	XP_011511041.1:n.-347-14834A>C
NM_001199799.2:c.58+25A>C MANE Select	NP_001186728.1:n.58+25A>C
NM_001199800.2:c.58+25A>C	NP_001186729.1:n.58+25A>C
NM_175924.4:c.58+25A>C	NP_787120.1:n.58+25A>C