Canonical Allele Identifier: CA1581765808
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129386871C= , CM000667.2:g.129386871C= GRCh38
NC_000005.9:g.128722564C= , CM000667.1:g.128722564C= GRCh37
NC_000005.8:g.128750463C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427770.2:n.163-1577C=
XR_948774.1:n.235-5780C=
XR_001742463.1:n.4089-1577C=
XR_001742464.1:n.2019-5780C=
XR_001742465.1:n.401-1577C=
XR_427770.3:n.337-1577C=