Canonical Allele Identifier: CA2581126311
Community Standard Title: NC_000013.11:g.23719720A>C
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23719720A>C , CM000675.2:g.23719720A>C GRCh38
NC_000013.10:g.24293859A>C , CM000675.1:g.24293859A>C GRCh37
NC_000013.9:g.23191859A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941745.1:n.370+3103A>C
XR_941745.2:n.393+3103A>C
XR_941746.1:n.372-2620A>C
XR_941746.2:n.394-2620A>C
XR_941747.1:n.371+3103A>C
XR_941747.2:n.393+3103A>C