Canonical Allele Identifier: CA82740815
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs1044861453
gnomAD v2: 3-121769348-G-A
gnomAD v3: 3-122050501-G-A
gnomAD v4: 3-122050501-G-A
MyVariant Identifiers: chr3:g.121769348G>A (hg19) chr3:g.122050501G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050501G>A , CM000665.2:g.122050501G>A GRCh38
NC_000003.11:g.121769348G>A , CM000665.1:g.121769348G>A GRCh37
NC_000003.10:g.123252038G>A NCBI36
NG_029928.1:g.140G>A
NG_031870.2:g.15054C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9919C>T XP_011511041.1:n.-348+9919C>T
XM_011512739.2:c.-348+9919C>T XP_011511041.1:n.-348+9919C>T
Search 100 bp 5'
Search 100 bp 3'