Canonical Allele Identifier: CA2587946263
Gene:

Linked Data

gnomAD v4: 19-7522609-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522609T>G , CM000681.2:g.7522609T>G GRCh38
NC_000019.9:g.7587495T>G , CM000681.1:g.7587495T>G GRCh37
NC_000019.8:g.7493495T>G NCBI36
NG_015806.1:g.5000T>G

Transcript Alleles

HGVS Amino-acid Change
XR_936293.1:n.926+233A>C
XR_936294.1:n.926+233A>C
XR_936295.1:n.570+233A>C
XR_936293.2:n.952+233A>C
XR_936294.2:n.952+233A>C