Canonical Allele Identifier: CA306408503

Gene:

Linked Data

• dbSNP Id: rs570280808
• gnomAD v3: 19-20218155-A-C
• gnomAD v4: 19-20218155-A-C
• MyVariant Identifiers: chr19:g.20328964A>C (hg19) ; chr19:g.20218155A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218155A>C , CM000681.2:g.20218155A>C	GRCh38
NC_000019.9:g.20328964A>C , CM000681.1:g.20328964A>C	GRCh37
NC_000019.8:g.20189964A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-839T>G
XR_936389.1:n.502-839T>G
XR_936390.1:n.511-839T>G
XR_936391.1:n.514-839T>G
XR_936392.1:n.514-839T>G
XR_936394.1:n.41-579A>C
XR_001754063.2:n.1506-839T>G
XR_001754064.2:n.138-839T>G
XR_001754066.1:n.3912-839T>G
XR_001754067.1:n.3912-839T>G
XR_001754068.1:n.3912-839T>G
XR_936394.2:n.41-579A>C
XR_936406.2:n.1411-839T>G