Canonical Allele Identifier: CA564088955

Gene:

Linked Data

• dbSNP Id: rs1313782029
• gnomAD v2: 5-159007803-T-A
• gnomAD v3: 5-159580795-T-A
• gnomAD v4: 5-159580795-T-A
• MyVariant Identifiers: chr5:g.159007803T>A (hg19) ; chr5:g.159580795T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580795T>A , CM000667.2:g.159580795T>A	GRCh38
NC_000005.9:g.159007803T>A , CM000667.1:g.159007803T>A	GRCh37
NC_000005.8:g.158940381T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+360T>A
XR_941140.1:n.2075+360T>A
XR_941141.1:n.570+360T>A
XR_941139.2:n.2229+360T>A