Canonical Allele Identifier: CA354144042

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712559C>A (hg19) ; chr3:g.121993712C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993712C>A , CM000665.2:g.121993712C>A	GRCh38
NC_000003.11:g.121712559C>A , CM000665.1:g.121712559C>A	GRCh37
NC_000003.10:g.123195249C>A	NCBI36
NG_031870.1:g.33569G>T
NG_031870.2:g.71843G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1037G>T MANE Select	ENSP00000345667.5:p.Ser346Ile
ENST00000460554.2:n.987G>T
ENST00000642615.1:c.*220G>T	ENSP00000495499.1:n.*220G>T
ENST00000273691.7:c.905G>T	ENSP00000273691.3:p.Ser302Ile
ENST00000344209.9:c.1037G>T	ENSP00000345667.5:p.Ser346Ile
ENST00000393631.5:c.770G>T	ENSP00000377251.1:p.Ser257Ile
ENST00000460554.1:n.1139G>T
ENST00000462014.1:c.941G>T	ENSP00000419414.1:p.Ser314Ile
NM_001199799.1:c.1037G>T	NP_001186728.1:p.Ser346Ile
NM_001199800.1:c.770G>T	NP_001186729.1:p.Ser257Ile
NM_175924.3:c.905G>T	NP_787120.1:p.Ser302Ile
XM_005247389.3:c.941G>T	XP_005247446.1:p.Ser314Ile
XM_011512738.1:c.1037G>T	XP_011511040.1:p.Ser346Ile
XM_011512739.1:c.500G>T	XP_011511041.1:p.Ser167Ile
XM_005247389.4:c.941G>T	XP_005247446.1:p.Ser314Ile
XM_011512738.2:c.1037G>T	XP_011511040.1:p.Ser346Ile
XM_011512739.2:c.500G>T	XP_011511041.1:p.Ser167Ile
NM_001199799.2:c.1037G>T MANE Select	NP_001186728.1:p.Ser346Ile
NM_001199800.2:c.770G>T	NP_001186729.1:p.Ser257Ile
NM_175924.4:c.905G>T	NP_787120.1:p.Ser302Ile