Canonical Allele Identifier: CA545643245

Gene: ILDR1

Linked Data

• gnomAD v2: 3-121769385-T-G
• MyVariant Identifiers: chr3:g.121769385T>G (hg19) ; chr3:g.122050538T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122050538T>G , CM000665.2:g.122050538T>G	GRCh38
NC_000003.11:g.121769385T>G , CM000665.1:g.121769385T>G	GRCh37
NC_000003.10:g.123252075T>G	NCBI36
NG_029928.1:g.177T>G
NG_031870.2:g.15017A>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011512739.1:c.-348+9882A>C	XP_011511041.1:n.-348+9882A>C
XM_011512739.2:c.-348+9882A>C	XP_011511041.1:n.-348+9882A>C