Canonical Allele Identifier: CA82735308

Gene: ILDR1

Linked Data

• dbSNP Id: rs190964735
• gnomAD v3: 3-121993690-C-A
• gnomAD v4: 3-121993690-C-A
• MyVariant Identifiers: chr3:g.121712537C>A (hg19) ; chr3:g.121993690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993690C>A , CM000665.2:g.121993690C>A	GRCh38
NC_000003.11:g.121712537C>A , CM000665.1:g.121712537C>A	GRCh37
NC_000003.10:g.123195227C>A	NCBI36
NG_031870.1:g.33591G>T
NG_031870.2:g.71865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1059G>T MANE Select	ENSP00000345667.5:p.Trp353Cys
ENST00000460554.2:n.1009G>T
ENST00000642615.1:c.*242G>T	ENSP00000495499.1:n.*242G>T
ENST00000273691.7:c.927G>T	ENSP00000273691.3:p.Trp309Cys
ENST00000344209.9:c.1059G>T	ENSP00000345667.5:p.Trp353Cys
ENST00000393631.5:c.792G>T	ENSP00000377251.1:p.Trp264Cys
ENST00000460554.1:n.1161G>T
ENST00000462014.1:c.963G>T	ENSP00000419414.1:p.Trp321Cys
NM_001199799.1:c.1059G>T	NP_001186728.1:p.Trp353Cys
NM_001199800.1:c.792G>T	NP_001186729.1:p.Trp264Cys
NM_175924.3:c.927G>T	NP_787120.1:p.Trp309Cys
XM_005247389.3:c.963G>T	XP_005247446.1:p.Trp321Cys
XM_011512738.1:c.1059G>T	XP_011511040.1:p.Trp353Cys
XM_011512739.1:c.522G>T	XP_011511041.1:p.Trp174Cys
XM_005247389.4:c.963G>T	XP_005247446.1:p.Trp321Cys
XM_011512738.2:c.1059G>T	XP_011511040.1:p.Trp353Cys
XM_011512739.2:c.522G>T	XP_011511041.1:p.Trp174Cys
NM_001199799.2:c.1059G>T MANE Select	NP_001186728.1:p.Trp353Cys
NM_001199800.2:c.792G>T	NP_001186729.1:p.Trp264Cys
NM_175924.4:c.927G>T	NP_787120.1:p.Trp309Cys