Canonical Allele Identifier: CA632429701

Gene:

Linked Data

• dbSNP Id: rs1057481544
• gnomAD v2: 19-20329216-G-A
• gnomAD v3: 19-20218407-G-A
• gnomAD v4: 19-20218407-G-A
• MyVariant Identifiers: chr19:g.20329216G>A (hg19) ; chr19:g.20218407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218407G>A , CM000681.2:g.20218407G>A	GRCh38
NC_000019.9:g.20329216G>A , CM000681.1:g.20329216G>A	GRCh37
NC_000019.8:g.20190216G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-1091C>T
XR_936389.1:n.502-1091C>T
XR_936390.1:n.511-1091C>T
XR_936391.1:n.514-1091C>T
XR_936392.1:n.514-1091C>T
XR_936394.1:n.41-327G>A
XR_001754063.2:n.1506-1091C>T
XR_001754064.2:n.138-1091C>T
XR_001754066.1:n.3912-1091C>T
XR_001754067.1:n.3912-1091C>T
XR_001754068.1:n.3912-1091C>T
XR_936394.2:n.41-327G>A
XR_936406.2:n.1411-1091C>T