Canonical Allele Identifier: CA2667221273

Gene: ILDR1

Linked Data

• gnomAD v4: 3-122022090-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022090C>G , CM000665.2:g.122022090C>G	GRCh38
NC_000003.11:g.121740937C>G , CM000665.1:g.121740937C>G	GRCh37
NC_000003.10:g.123223627C>G	NCBI36
NG_031870.1:g.5191G>C
NG_031870.2:g.43465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.-13G>C MANE Select	ENSP00000345667.5:n.-13G>C
ENST00000642615.1:c.-13G>C	ENSP00000495499.1:n.-13G>C
ENST00000273691.7:c.-13G>C	ENSP00000273691.3:n.-13G>C
ENST00000344209.9:c.-13G>C	ENSP00000345667.5:n.-13G>C
ENST00000393631.5:c.-13G>C	ENSP00000377251.1:n.-13G>C
ENST00000460554.1:n.109G>C
NM_001199799.1:c.-13G>C	NP_001186728.1:n.-13G>C
NM_001199800.1:c.-13G>C	NP_001186729.1:n.-13G>C
NM_175924.3:c.-13G>C	NP_787120.1:n.-13G>C
XM_011512738.1:c.-13G>C	XP_011511040.1:n.-13G>C
XM_011512739.1:c.-347-14929G>C	XP_011511041.1:n.-347-14929G>C
XM_011512738.2:c.-13G>C	XP_011511040.1:n.-13G>C
XM_011512739.2:c.-347-14929G>C	XP_011511041.1:n.-347-14929G>C
NM_001199799.2:c.-13G>C MANE Select	NP_001186728.1:n.-13G>C
NM_001199800.2:c.-13G>C	NP_001186729.1:n.-13G>C
NM_175924.4:c.-13G>C	NP_787120.1:n.-13G>C