Canonical Allele Identifier: CA354144038

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712557C>G (hg19) ; chr3:g.121993710C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993710C>G , CM000665.2:g.121993710C>G	GRCh38
NC_000003.11:g.121712557C>G , CM000665.1:g.121712557C>G	GRCh37
NC_000003.10:g.123195247C>G	NCBI36
NG_031870.1:g.33571G>C
NG_031870.2:g.71845G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1039G>C MANE Select	ENSP00000345667.5:p.Asp347His
ENST00000460554.2:n.989G>C
ENST00000642615.1:c.*222G>C	ENSP00000495499.1:n.*222G>C
ENST00000273691.7:c.907G>C	ENSP00000273691.3:p.Asp303His
ENST00000344209.9:c.1039G>C	ENSP00000345667.5:p.Asp347His
ENST00000393631.5:c.772G>C	ENSP00000377251.1:p.Asp258His
ENST00000460554.1:n.1141G>C
ENST00000462014.1:c.943G>C	ENSP00000419414.1:p.Asp315His
NM_001199799.1:c.1039G>C	NP_001186728.1:p.Asp347His
NM_001199800.1:c.772G>C	NP_001186729.1:p.Asp258His
NM_175924.3:c.907G>C	NP_787120.1:p.Asp303His
XM_005247389.3:c.943G>C	XP_005247446.1:p.Asp315His
XM_011512738.1:c.1039G>C	XP_011511040.1:p.Asp347His
XM_011512739.1:c.502G>C	XP_011511041.1:p.Asp168His
XM_005247389.4:c.943G>C	XP_005247446.1:p.Asp315His
XM_011512738.2:c.1039G>C	XP_011511040.1:p.Asp347His
XM_011512739.2:c.502G>C	XP_011511041.1:p.Asp168His
NM_001199799.2:c.1039G>C MANE Select	NP_001186728.1:p.Asp347His
NM_001199800.2:c.772G>C	NP_001186729.1:p.Asp258His
NM_175924.4:c.907G>C	NP_787120.1:p.Asp303His