Canonical Allele Identifier: CA1082999968

Gene:

Linked Data

• dbSNP Id: rs1760949853
• gnomAD v3: 5-152354390-G-A
• gnomAD v4: 5-152354390-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354390G>A , CM000667.2:g.152354390G>A	GRCh38
NC_000005.9:g.151733951G>A , CM000667.1:g.151733951G>A	GRCh37
NC_000005.8:g.151714144G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_944433.1:n.196+16527G>A
XR_944433.2:n.197+16527G>A