Canonical Allele Identifier: CA752803698

Gene:

Linked Data

• dbSNP Id: rs1410198232
• MyVariant Identifiers: chr22:g.36525951A>G (hg19) ; chr22:g.36129903A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129903A>G , CM000684.2:g.36129903A>G	GRCh38
NC_000022.10:g.36525951A>G , CM000684.1:g.36525951A>G	GRCh37
NC_000022.9:g.34855897A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3259T>C
XR_938219.1:n.3033T>C
XR_938220.1:n.3033T>C
XR_938221.1:n.1471+3959T>C
XR_001755516.2:n.4895T>C
XR_001755517.2:n.3122T>C
XR_001755518.2:n.4895T>C
XR_001755519.2:n.4895T>C
XR_001755520.2:n.4895T>C
XR_001755521.2:n.4895T>C
XR_001755522.2:n.1637-2130T>C
XR_001755525.2:n.1637-549T>C
XR_001755526.2:n.1637-2130T>C
XR_430441.4:n.1636+3259T>C