Canonical Allele Identifier: CA752803741

Gene:

Linked Data

• dbSNP Id: rs1434007269
• gnomAD v3: 22-36130004-T-A
• gnomAD v4: 22-36130004-T-A
• MyVariant Identifiers: chr22:g.36526052T>A (hg19) ; chr22:g.36130004T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36130004T>A , CM000684.2:g.36130004T>A	GRCh38
NC_000022.10:g.36526052T>A , CM000684.1:g.36526052T>A	GRCh37
NC_000022.9:g.34855998T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3158A>T
XR_938219.1:n.2932A>T
XR_938220.1:n.2932A>T
XR_938221.1:n.1471+3858A>T
XR_001755516.2:n.4794A>T
XR_001755517.2:n.3021A>T
XR_001755518.2:n.4794A>T
XR_001755519.2:n.4794A>T
XR_001755520.2:n.4794A>T
XR_001755521.2:n.4794A>T
XR_001755522.2:n.1637-2231A>T
XR_001755525.2:n.1637-650A>T
XR_001755526.2:n.1637-2231A>T
XR_430441.4:n.1636+3158A>T