Canonical Allele Identifier: CA2568734

Gene: ILDR1

Linked Data

• dbSNP Id: rs748525876
• ExAC: 3:121712367 C / G
• gnomAD v2: 3-121712367-C-G
• gnomAD v3: 3-121993520-C-G
• gnomAD v4: 3-121993520-C-G
• MyVariant Identifiers: chr3:g.121712367C>G (hg19) ; chr3:g.121993520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993520C>G , CM000665.2:g.121993520C>G	GRCh38
NC_000003.11:g.121712367C>G , CM000665.1:g.121712367C>G	GRCh37
NC_000003.10:g.123195057C>G	NCBI36
NG_031870.1:g.33761G>C
NG_031870.2:g.72035G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1229G>C MANE Select	ENSP00000345667.5:p.Gly410Ala
ENST00000460554.2:n.1179G>C
ENST00000642615.1:c.*412G>C	ENSP00000495499.1:n.*412G>C
ENST00000273691.7:c.1097G>C	ENSP00000273691.3:p.Gly366Ala
ENST00000344209.9:c.1229G>C	ENSP00000345667.5:p.Gly410Ala
ENST00000393631.5:c.962G>C	ENSP00000377251.1:p.Gly321Ala
ENST00000460554.1:n.1331G>C
ENST00000462014.1:c.1133G>C	ENSP00000419414.1:p.Gly378Ala
NM_001199799.1:c.1229G>C	NP_001186728.1:p.Gly410Ala
NM_001199800.1:c.962G>C	NP_001186729.1:p.Gly321Ala
NM_175924.3:c.1097G>C	NP_787120.1:p.Gly366Ala
XM_005247389.3:c.1133G>C	XP_005247446.1:p.Gly378Ala
XM_011512738.1:c.1229G>C	XP_011511040.1:p.Gly410Ala
XM_011512739.1:c.692G>C	XP_011511041.1:p.Gly231Ala
XM_005247389.4:c.1133G>C	XP_005247446.1:p.Gly378Ala
XM_011512738.2:c.1229G>C	XP_011511040.1:p.Gly410Ala
XM_011512739.2:c.692G>C	XP_011511041.1:p.Gly231Ala
NM_001199799.2:c.1229G>C MANE Select	NP_001186728.1:p.Gly410Ala
NM_001199800.2:c.962G>C	NP_001186729.1:p.Gly321Ala
NM_175924.4:c.1097G>C	NP_787120.1:p.Gly366Ala