Canonical Allele Identifier: CA884197637

Gene:

Linked Data

• dbSNP Id: rs1318968191
• gnomAD v4: 19-7522603-A-G
• MyVariant Identifiers: chr19:g.7587489A>G (hg19) ; chr19:g.7522603A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7522603A>G , CM000681.2:g.7522603A>G	GRCh38
NC_000019.9:g.7587489A>G , CM000681.1:g.7587489A>G	GRCh37
NC_000019.8:g.7493489A>G	NCBI36
NG_015806.1:g.4994A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_936293.1:n.926+239T>C
XR_936294.1:n.926+239T>C
XR_936295.1:n.570+239T>C
XR_936293.2:n.952+239T>C
XR_936294.2:n.952+239T>C