Canonical Allele Identifier: CA2587946245
Gene:

Linked Data

gnomAD v4: 19-7522597-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522597T>C , CM000681.2:g.7522597T>C GRCh38
NC_000019.9:g.7587483T>C , CM000681.1:g.7587483T>C GRCh37
NC_000019.8:g.7493483T>C NCBI36
NG_015806.1:g.4988T>C

Transcript Alleles

HGVS Amino-acid Change
XR_936293.1:n.926+245A>G
XR_936294.1:n.926+245A>G
XR_936295.1:n.570+245A>G
XR_936293.2:n.952+245A>G
XR_936294.2:n.952+245A>G