Canonical Allele Identifier: CA354142619

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993337-G-A
• MyVariant Identifiers: chr3:g.121712184G>A (hg19) ; chr3:g.121993337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993337G>A , CM000665.2:g.121993337G>A	GRCh38
NC_000003.11:g.121712184G>A , CM000665.1:g.121712184G>A	GRCh37
NC_000003.10:g.123194874G>A	NCBI36
NG_031870.1:g.33944C>T
NG_031870.2:g.72218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1412C>T MANE Select	ENSP00000345667.5:p.Pro471Leu
ENST00000460554.2:n.1362C>T
ENST00000642615.1:c.*595C>T	ENSP00000495499.1:n.*595C>T
ENST00000273691.7:c.1280C>T	ENSP00000273691.3:p.Pro427Leu
ENST00000344209.9:c.1412C>T	ENSP00000345667.5:p.Pro471Leu
ENST00000393631.5:c.1145C>T	ENSP00000377251.1:p.Pro382Leu
ENST00000460554.1:n.1514C>T
ENST00000462014.1:c.1316C>T	ENSP00000419414.1:p.Pro439Leu
NM_001199799.1:c.1412C>T	NP_001186728.1:p.Pro471Leu
NM_001199800.1:c.1145C>T	NP_001186729.1:p.Pro382Leu
NM_175924.3:c.1280C>T	NP_787120.1:p.Pro427Leu
XM_005247389.3:c.1316C>T	XP_005247446.1:p.Pro439Leu
XM_011512738.1:c.1412C>T	XP_011511040.1:p.Pro471Leu
XM_011512739.1:c.875C>T	XP_011511041.1:p.Pro292Leu
XM_005247389.4:c.1316C>T	XP_005247446.1:p.Pro439Leu
XM_011512738.2:c.1412C>T	XP_011511040.1:p.Pro471Leu
XM_011512739.2:c.875C>T	XP_011511041.1:p.Pro292Leu
NM_001199799.2:c.1412C>T MANE Select	NP_001186728.1:p.Pro471Leu
NM_001199800.2:c.1145C>T	NP_001186729.1:p.Pro382Leu
NM_175924.4:c.1280C>T	NP_787120.1:p.Pro427Leu