Canonical Allele Identifier: CA513685580

Gene:

Linked Data

• gnomAD v4: 22-23573069-A-C
• MyVariant Identifiers: chr22:g.23915256A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573069A>C , CM000684.2:g.23573069A>C	GRCh38
NC_000022.10:g.23915256A>C , CM000684.1:g.23915256A>C	GRCh37
NC_000022.9:g.22245256A>C	NCBI36
NG_009791.1:g.12240T>G , LRG_69:g.12240T>G

Transcript Alleles

HGVS	Amino-acid Change
XR_938075.1:n.710A>C
XR_938076.1:n.775A>C
XR_938078.1:n.674A>C
XR_938079.1:n.567A>C
XR_938075.2:n.1294A>C
XR_938078.2:n.1258A>C