Canonical Allele Identifier: CA354144019

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993701-G-A
• MyVariant Identifiers: chr3:g.121712548G>A (hg19) ; chr3:g.121993701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993701G>A , CM000665.2:g.121993701G>A	GRCh38
NC_000003.11:g.121712548G>A , CM000665.1:g.121712548G>A	GRCh37
NC_000003.10:g.123195238G>A	NCBI36
NG_031870.1:g.33580C>T
NG_031870.2:g.71854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1048C>T MANE Select	ENSP00000345667.5:p.His350Tyr
ENST00000460554.2:n.998C>T
ENST00000642615.1:c.*231C>T	ENSP00000495499.1:n.*231C>T
ENST00000273691.7:c.916C>T	ENSP00000273691.3:p.His306Tyr
ENST00000344209.9:c.1048C>T	ENSP00000345667.5:p.His350Tyr
ENST00000393631.5:c.781C>T	ENSP00000377251.1:p.His261Tyr
ENST00000460554.1:n.1150C>T
ENST00000462014.1:c.952C>T	ENSP00000419414.1:p.His318Tyr
NM_001199799.1:c.1048C>T	NP_001186728.1:p.His350Tyr
NM_001199800.1:c.781C>T	NP_001186729.1:p.His261Tyr
NM_175924.3:c.916C>T	NP_787120.1:p.His306Tyr
XM_005247389.3:c.952C>T	XP_005247446.1:p.His318Tyr
XM_011512738.1:c.1048C>T	XP_011511040.1:p.His350Tyr
XM_011512739.1:c.511C>T	XP_011511041.1:p.His171Tyr
XM_005247389.4:c.952C>T	XP_005247446.1:p.His318Tyr
XM_011512738.2:c.1048C>T	XP_011511040.1:p.His350Tyr
XM_011512739.2:c.511C>T	XP_011511041.1:p.His171Tyr
NM_001199799.2:c.1048C>T MANE Select	NP_001186728.1:p.His350Tyr
NM_001199800.2:c.781C>T	NP_001186729.1:p.His261Tyr
NM_175924.4:c.916C>T	NP_787120.1:p.His306Tyr