Canonical Allele Identifier: CA82723649

Gene: ILDR1

Linked Data

• dbSNP Id: rs796150665
• gnomAD v2: 3-121741021-A-G
• gnomAD v3: 3-122022174-A-G
• gnomAD v4: 3-122022174-A-G
• MyVariant Identifiers: chr3:g.121741021A>G (hg19) ; chr3:g.122022174A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022174A>G , CM000665.2:g.122022174A>G	GRCh38
NC_000003.11:g.121741021A>G , CM000665.1:g.121741021A>G	GRCh37
NC_000003.10:g.123223711A>G	NCBI36
NG_031870.1:g.5107T>C
NG_031870.2:g.43381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.-97T>C MANE Select	ENSP00000345667.5:n.-97T>C
ENST00000642615.1:c.-97T>C	ENSP00000495499.1:n.-97T>C
ENST00000273691.7:c.-97T>C	ENSP00000273691.3:n.-97T>C
ENST00000344209.9:c.-97T>C	ENSP00000345667.5:n.-97T>C
ENST00000460554.1:n.25T>C
NM_001199799.1:c.-97T>C	NP_001186728.1:n.-97T>C
NM_001199800.1:c.-97T>C	NP_001186729.1:n.-97T>C
NM_175924.3:c.-97T>C	NP_787120.1:n.-97T>C
XM_011512738.1:c.-97T>C	XP_011511040.1:n.-97T>C
XM_011512739.1:c.-347-15013T>C	XP_011511041.1:n.-347-15013T>C
XM_011512738.2:c.-97T>C	XP_011511040.1:n.-97T>C
XM_011512739.2:c.-347-15013T>C	XP_011511041.1:n.-347-15013T>C
NM_001199799.2:c.-97T>C MANE Select	NP_001186728.1:n.-97T>C
NM_001199800.2:c.-97T>C	NP_001186729.1:n.-97T>C
NM_175924.4:c.-97T>C	NP_787120.1:n.-97T>C