Canonical Allele Identifier: CA306408548

Gene:

Linked Data

• dbSNP Id: rs782433798
• gnomAD v3: 19-20218281-C-G
• gnomAD v4: 19-20218281-C-G
• MyVariant Identifiers: chr19:g.20329090C>G (hg19) ; chr19:g.20218281C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218281C>G , CM000681.2:g.20218281C>G	GRCh38
NC_000019.9:g.20329090C>G , CM000681.1:g.20329090C>G	GRCh37
NC_000019.8:g.20190090C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-965G>C
XR_936389.1:n.502-965G>C
XR_936390.1:n.511-965G>C
XR_936391.1:n.514-965G>C
XR_936392.1:n.514-965G>C
XR_936394.1:n.41-453C>G
XR_001754063.2:n.1506-965G>C
XR_001754064.2:n.138-965G>C
XR_001754066.1:n.3912-965G>C
XR_001754067.1:n.3912-965G>C
XR_001754068.1:n.3912-965G>C
XR_936394.2:n.41-453C>G
XR_936406.2:n.1411-965G>C