Canonical Allele Identifier: CA67533377
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs539735288
gnomAD v3: 2-233251286-G-A
gnomAD v4: 2-233251286-G-A
MyVariant Identifiers: chr2:g.234159932G>A (hg19) chr2:g.233251286G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233251286G>A , CM000664.2:g.233251286G>A GRCh38
NC_000002.11:g.234159932G>A , CM000664.1:g.234159932G>A GRCh37
NC_000002.10:g.233824671G>A NCBI36
NG_023038.1:g.4716G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000431917.5:c.-137-4816G>A ENSP00000397512.1:n.-137-4816G>A
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