Canonical Allele Identifier: CA632429683

Gene:

Linked Data

• dbSNP Id: rs1555721020
• gnomAD v2: 19-20328940-A-G
• gnomAD v3: 19-20218131-A-G
• gnomAD v4: 19-20218131-A-G
• MyVariant Identifiers: chr19:g.20328940A>G (hg19) ; chr19:g.20218131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218131A>G , CM000681.2:g.20218131A>G	GRCh38
NC_000019.9:g.20328940A>G , CM000681.1:g.20328940A>G	GRCh37
NC_000019.8:g.20189940A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-815T>C
XR_936389.1:n.502-815T>C
XR_936390.1:n.511-815T>C
XR_936391.1:n.514-815T>C
XR_936392.1:n.514-815T>C
XR_936394.1:n.41-603A>G
XR_001754063.2:n.1506-815T>C
XR_001754064.2:n.138-815T>C
XR_001754066.1:n.3912-815T>C
XR_001754067.1:n.3912-815T>C
XR_001754068.1:n.3912-815T>C
XR_936394.2:n.41-603A>G
XR_936406.2:n.1411-815T>C