Canonical Allele Identifier: CA354143841

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712469A>G (hg19) ; chr3:g.121993622A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993622A>G , CM000665.2:g.121993622A>G	GRCh38
NC_000003.11:g.121712469A>G , CM000665.1:g.121712469A>G	GRCh37
NC_000003.10:g.123195159A>G	NCBI36
NG_031870.1:g.33659T>C
NG_031870.2:g.71933T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1127T>C MANE Select	ENSP00000345667.5:p.Phe376Ser
ENST00000460554.2:n.1077T>C
ENST00000642615.1:c.*310T>C	ENSP00000495499.1:n.*310T>C
ENST00000273691.7:c.995T>C	ENSP00000273691.3:p.Phe332Ser
ENST00000344209.9:c.1127T>C	ENSP00000345667.5:p.Phe376Ser
ENST00000393631.5:c.860T>C	ENSP00000377251.1:p.Phe287Ser
ENST00000460554.1:n.1229T>C
ENST00000462014.1:c.1031T>C	ENSP00000419414.1:p.Phe344Ser
NM_001199799.1:c.1127T>C	NP_001186728.1:p.Phe376Ser
NM_001199800.1:c.860T>C	NP_001186729.1:p.Phe287Ser
NM_175924.3:c.995T>C	NP_787120.1:p.Phe332Ser
XM_005247389.3:c.1031T>C	XP_005247446.1:p.Phe344Ser
XM_011512738.1:c.1127T>C	XP_011511040.1:p.Phe376Ser
XM_011512739.1:c.590T>C	XP_011511041.1:p.Phe197Ser
XM_005247389.4:c.1031T>C	XP_005247446.1:p.Phe344Ser
XM_011512738.2:c.1127T>C	XP_011511040.1:p.Phe376Ser
XM_011512739.2:c.590T>C	XP_011511041.1:p.Phe197Ser
NM_001199799.2:c.1127T>C MANE Select	NP_001186728.1:p.Phe376Ser
NM_001199800.2:c.860T>C	NP_001186729.1:p.Phe287Ser
NM_175924.4:c.995T>C	NP_787120.1:p.Phe332Ser