Canonical Allele Identifier: CA1082999987
Gene:

Linked Data

dbSNP Id: rs1760950511
gnomAD v3: 5-152354454-G-A
gnomAD v4: 5-152354454-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.152354454G>A , CM000667.2:g.152354454G>A GRCh38
NC_000005.9:g.151734015G>A , CM000667.1:g.151734015G>A GRCh37
NC_000005.8:g.151714208G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944433.1:n.196+16591G>A
XR_944433.2:n.197+16591G>A
Search 100 bp 5'
Search 100 bp 3'