Canonical Allele Identifier: CA22149258

Gene: EPS15-AS1

Linked Data

• dbSNP Id: rs570160921
• gnomAD v3: 1-51557461-T-C
• gnomAD v4: 1-51557461-T-C
• MyVariant Identifiers: chr1:g.52023133T>C (hg19) ; chr1:g.51557461T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.51557461T>C , CM000663.2:g.51557461T>C	GRCh38
NC_000001.10:g.52023133T>C , CM000663.1:g.52023133T>C	GRCh37
NC_000001.9:g.51795721T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947340.1:n.2246-3421T>C
XR_947341.1:n.2247-3421T>C
XR_001737635.2:n.1894-3421T>C
XR_001737636.2:n.1894-3421T>C
XR_001737637.2:n.1894-3421T>C
XR_001737638.2:n.1894-3421T>C
XR_001737639.2:n.1894-3421T>C