Canonical Allele Identifier: CA752803682

Gene:

Linked Data

• dbSNP Id: rs1306994434
• MyVariant Identifiers: chr22:g.36525868A>G (hg19) ; chr22:g.36129820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129820A>G , CM000684.2:g.36129820A>G	GRCh38
NC_000022.10:g.36525868A>G , CM000684.1:g.36525868A>G	GRCh37
NC_000022.9:g.34855814A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_430441.2:n.1547+3342T>C
XR_938219.1:n.3116T>C
XR_938220.1:n.3116T>C
XR_938221.1:n.1471+4042T>C
XR_001755516.2:n.4978T>C
XR_001755517.2:n.3205T>C
XR_001755518.2:n.4978T>C
XR_001755519.2:n.4978T>C
XR_001755520.2:n.4978T>C
XR_001755521.2:n.4978T>C
XR_001755522.2:n.1637-2047T>C
XR_001755525.2:n.1637-466T>C
XR_001755526.2:n.1637-2047T>C
XR_430441.4:n.1636+3342T>C