Canonical Allele Identifier: CA129996907

Gene:

Linked Data

• dbSNP Id: rs142305987
• gnomAD v2: 5-151734038-G-A
• gnomAD v3: 5-152354477-G-A
• gnomAD v4: 5-152354477-G-A
• MyVariant Identifiers: chr5:g.151734038G>A (hg19) ; chr5:g.152354477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354477G>A , CM000667.2:g.152354477G>A	GRCh38
NC_000005.9:g.151734038G>A , CM000667.1:g.151734038G>A	GRCh37
NC_000005.8:g.151714231G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_944433.1:n.196+16614G>A
XR_944433.2:n.197+16614G>A