Canonical Allele Identifier: CA632429675

Gene:

Linked Data

• dbSNP Id: rs1161579936
• gnomAD v2: 19-20328686-A-T
• gnomAD v3: 19-20217877-A-T
• gnomAD v4: 19-20217877-A-T
• MyVariant Identifiers: chr19:g.20328686A>T (hg19) ; chr19:g.20217877A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20217877A>T , CM000681.2:g.20217877A>T	GRCh38
NC_000019.9:g.20328686A>T , CM000681.1:g.20328686A>T	GRCh37
NC_000019.8:g.20189686A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-561T>A
XR_936389.1:n.502-561T>A
XR_936390.1:n.511-561T>A
XR_936391.1:n.514-561T>A
XR_936392.1:n.514-561T>A
XR_936394.1:n.41-857A>T
XR_001754063.2:n.1506-561T>A
XR_001754064.2:n.138-561T>A
XR_001754066.1:n.3912-561T>A
XR_001754067.1:n.3912-561T>A
XR_001754068.1:n.3912-561T>A
XR_936394.2:n.41-857A>T
XR_936406.2:n.1411-561T>A