Canonical Allele Identifier: CA1052924531

Gene: ILDR1

Linked Data

• gnomAD v3: 3-122050562-A-C
• gnomAD v4: 3-122050562-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122050562A>C , CM000665.2:g.122050562A>C	GRCh38
NC_000003.11:g.121769409A>C , CM000665.1:g.121769409A>C	GRCh37
NC_000003.10:g.123252099A>C	NCBI36
NG_029928.1:g.201A>C
NG_031870.2:g.14993T>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011512739.1:c.-348+9858T>G	XP_011511041.1:n.-348+9858T>G
XM_011512739.2:c.-348+9858T>G	XP_011511041.1:n.-348+9858T>G