Canonical Allele Identifier: CA354142016

Gene: ILDR1

Linked Data

• dbSNP Id: rs374884043
• gnomAD v2: 3-121712070-G-T
• gnomAD v3: 3-121993223-G-T
• gnomAD v4: 3-121993223-G-T
• MyVariant Identifiers: chr3:g.121712070G>T (hg19) ; chr3:g.121993223G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993223G>T , CM000665.2:g.121993223G>T	GRCh38
NC_000003.11:g.121712070G>T , CM000665.1:g.121712070G>T	GRCh37
NC_000003.10:g.123194760G>T	NCBI36
NG_031870.1:g.34058C>A
NG_031870.2:g.72332C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1526C>A MANE Select	ENSP00000345667.5:p.Pro509Gln
ENST00000460554.2:n.1476C>A
ENST00000642615.1:c.*709C>A	ENSP00000495499.1:n.*709C>A
ENST00000273691.7:c.1394C>A	ENSP00000273691.3:p.Pro465Gln
ENST00000344209.9:c.1526C>A	ENSP00000345667.5:p.Pro509Gln
ENST00000393631.5:c.1259C>A	ENSP00000377251.1:p.Pro420Gln
ENST00000460554.1:n.1628C>A
ENST00000462014.1:c.1430C>A	ENSP00000419414.1:p.Pro477Gln
NM_001199799.1:c.1526C>A	NP_001186728.1:p.Pro509Gln
NM_001199800.1:c.1259C>A	NP_001186729.1:p.Pro420Gln
NM_175924.3:c.1394C>A	NP_787120.1:p.Pro465Gln
XM_005247389.3:c.1430C>A	XP_005247446.1:p.Pro477Gln
XM_011512738.1:c.1526C>A	XP_011511040.1:p.Pro509Gln
XM_011512739.1:c.989C>A	XP_011511041.1:p.Pro330Gln
XM_005247389.4:c.1430C>A	XP_005247446.1:p.Pro477Gln
XM_011512738.2:c.1526C>A	XP_011511040.1:p.Pro509Gln
XM_011512739.2:c.989C>A	XP_011511041.1:p.Pro330Gln
NM_001199799.2:c.1526C>A MANE Select	NP_001186728.1:p.Pro509Gln
NM_001199800.2:c.1259C>A	NP_001186729.1:p.Pro420Gln
NM_175924.4:c.1394C>A	NP_787120.1:p.Pro465Gln