Canonical Allele Identifier: CA1052924409
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs2072165289
gnomAD v3: 3-122050474-T-G
gnomAD v4: 3-122050474-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050474T>G , CM000665.2:g.122050474T>G GRCh38
NC_000003.11:g.121769321T>G , CM000665.1:g.121769321T>G GRCh37
NC_000003.10:g.123252011T>G NCBI36
NG_029928.1:g.113T>G
NG_031870.2:g.15081A>C

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9946A>C XP_011511041.1:n.-348+9946A>C
XM_011512739.2:c.-348+9946A>C XP_011511041.1:n.-348+9946A>C
Search 100 bp 5'
Search 100 bp 3'