Canonical Allele Identifier: CA147329649
Community Standard Title: NC_000006.12:g.123668596A>C
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.123668596A>C , CM000668.2:g.123668596A>C GRCh38
NC_000006.11:g.123989741A>C , CM000668.1:g.123989741A>C GRCh37
NC_000006.10:g.124031440A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_942943.1:n.172-264A>C
XR_942943.2:n.1481-264A>C
XR_942944.1:n.150-264A>C