Canonical Allele Identifier: CA307575912

Gene:

Linked Data

• dbSNP Id: rs953688184
• gnomAD v2: 19-34012868-T-A
• gnomAD v3: 19-33521962-T-A
• gnomAD v4: 19-33521962-T-A
• MyVariant Identifiers: chr19:g.34012868T>A (hg19) ; chr19:g.34012868_34012869delinsAG (hg19) ; chr19:g.33521962T>A (hg38) ; chr19:g.33521962_33521963delinsAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521962T>A , CM000681.2:g.33521962T>A	GRCh38
NC_000019.9:g.34012868T>A , CM000681.1:g.34012868T>A	GRCh37
NC_000019.8:g.38704708T>A	NCBI36
NG_013358.1:g.4932A>T
NG_013358.2:g.4932A>T

Transcript Alleles

HGVS	Amino-acid Change
XR_935918.1:n.21T>A
XR_935919.1:n.16T>A
XR_001754035.2:n.29T>A
XR_935918.2:n.29T>A