Canonical Allele Identifier: CA2568789

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993820A>G , CM000665.2:g.121993820A>G	GRCh38
NC_000003.11:g.121712667A>G , CM000665.1:g.121712667A>G	GRCh37
NC_000003.10:g.123195357A>G	NCBI36
NG_031870.1:g.33461T>C
NG_031870.2:g.71735T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001199799.2:c.929T>C MANE Select	NP_001186728.1:p.Phe310Ser
ENST00000344209.10:c.929T>C MANE Select	ENSP00000345667.5:p.Phe310Ser
NM_001199799.1:c.929T>C	NP_001186728.1:p.Phe310Ser
NM_001199800.1:c.662T>C	NP_001186729.1:p.Phe221Ser
NM_001199800.2:c.662T>C	NP_001186729.1:p.Phe221Ser
NM_175924.3:c.797T>C	NP_787120.1:p.Phe266Ser
NM_175924.4:c.797T>C	NP_787120.1:p.Phe266Ser
ENST00000273691.7:c.797T>C	ENSP00000273691.3:p.Phe266Ser
ENST00000344209.9:c.929T>C	ENSP00000345667.5:p.Phe310Ser
ENST00000393631.5:c.662T>C	ENSP00000377251.1:p.Phe221Ser
ENST00000460554.1:n.1031T>C
ENST00000460554.2:n.879T>C
ENST00000462014.1:c.833T>C	ENSP00000419414.1:p.Phe278Ser
ENST00000642615.1:c.*112T>C	ENSP00000495499.1:n.*112T>C
XM_005247389.3:c.833T>C	XP_005247446.1:p.Phe278Ser
XM_005247389.4:c.833T>C	XP_005247446.1:p.Phe278Ser
XM_011512738.1:c.929T>C	XP_011511040.1:p.Phe310Ser
XM_011512738.2:c.929T>C	XP_011511040.1:p.Phe310Ser
XM_011512739.1:c.392T>C	XP_011511041.1:p.Phe131Ser
XM_011512739.2:c.392T>C	XP_011511041.1:p.Phe131Ser