Canonical Allele Identifier: CA354136077

Gene: ILDR1

Linked Data

• gnomAD v4: 3-122022068-G-T
• MyVariant Identifiers: chr3:g.121740915G>T (hg19) ; chr3:g.122022068G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022068G>T , CM000665.2:g.122022068G>T	GRCh38
NC_000003.11:g.121740915G>T , CM000665.1:g.121740915G>T	GRCh37
NC_000003.10:g.123223605G>T	NCBI36
NG_031870.1:g.5213C>A
NG_031870.2:g.43487C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.10C>A MANE Select	ENSP00000345667.5:p.Pro4Thr
ENST00000642615.1:c.10C>A	ENSP00000495499.1:p.Pro4Thr
ENST00000273691.7:c.10C>A	ENSP00000273691.3:p.Pro4Thr
ENST00000344209.9:c.10C>A	ENSP00000345667.5:p.Pro4Thr
ENST00000393631.5:c.10C>A	ENSP00000377251.1:p.Pro4Thr
ENST00000460554.1:n.131C>A
NM_001199799.1:c.10C>A	NP_001186728.1:p.Pro4Thr
NM_001199800.1:c.10C>A	NP_001186729.1:p.Pro4Thr
NM_175924.3:c.10C>A	NP_787120.1:p.Pro4Thr
XM_011512738.1:c.10C>A	XP_011511040.1:p.Pro4Thr
XM_011512739.1:c.-347-14907C>A	XP_011511041.1:n.-347-14907C>A
XM_011512738.2:c.10C>A	XP_011511040.1:p.Pro4Thr
XM_011512739.2:c.-347-14907C>A	XP_011511041.1:n.-347-14907C>A
NM_001199799.2:c.10C>A MANE Select	NP_001186728.1:p.Pro4Thr
NM_001199800.2:c.10C>A	NP_001186729.1:p.Pro4Thr
NM_175924.4:c.10C>A	NP_787120.1:p.Pro4Thr