Canonical Allele Identifier: CA354141736

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993155-G-T
• MyVariant Identifiers: chr3:g.121712002G>T (hg19) ; chr3:g.121993155G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993155G>T , CM000665.2:g.121993155G>T	GRCh38
NC_000003.11:g.121712002G>T , CM000665.1:g.121712002G>T	GRCh37
NC_000003.10:g.123194692G>T	NCBI36
NG_031870.1:g.34126C>A
NG_031870.2:g.72400C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1594C>A MANE Select	ENSP00000345667.5:p.Arg532Ser
ENST00000460554.2:n.1544C>A
ENST00000642615.1:c.*777C>A	ENSP00000495499.1:n.*777C>A
ENST00000273691.7:c.1462C>A	ENSP00000273691.3:p.Arg488Ser
ENST00000344209.9:c.1594C>A	ENSP00000345667.5:p.Arg532Ser
ENST00000393631.5:c.1327C>A	ENSP00000377251.1:p.Arg443Ser
ENST00000460554.1:n.1696C>A
ENST00000462014.1:c.1498C>A	ENSP00000419414.1:p.Arg500Ser
NM_001199799.1:c.1594C>A	NP_001186728.1:p.Arg532Ser
NM_001199800.1:c.1327C>A	NP_001186729.1:p.Arg443Ser
NM_175924.3:c.1462C>A	NP_787120.1:p.Arg488Ser
XM_005247389.3:c.1498C>A	XP_005247446.1:p.Arg500Ser
XM_011512738.1:c.1558+36C>A	XP_011511040.1:n.1558+36C>A
XM_011512739.1:c.1057C>A	XP_011511041.1:p.Arg353Ser
XM_005247389.4:c.1498C>A	XP_005247446.1:p.Arg500Ser
XM_011512738.2:c.1558+36C>A	XP_011511040.1:n.1558+36C>A
XM_011512739.2:c.1057C>A	XP_011511041.1:p.Arg353Ser
NM_001199799.2:c.1594C>A MANE Select	NP_001186728.1:p.Arg532Ser
NM_001199800.2:c.1327C>A	NP_001186729.1:p.Arg443Ser
NM_175924.4:c.1462C>A	NP_787120.1:p.Arg488Ser