Canonical Allele Identifier: CA2403722531
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36129915G= , CM000684.2:g.36129915G= GRCh38
NC_000022.10:g.36525963G= , CM000684.1:g.36525963G= GRCh37
NC_000022.9:g.34855909G= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430441.2:n.1547+3247C=
XR_938219.1:n.3021C=
XR_938220.1:n.3021C=
XR_938221.1:n.1471+3947C=
XR_001755516.2:n.4883C=
XR_001755517.2:n.3110C=
XR_001755518.2:n.4883C=
XR_001755519.2:n.4883C=
XR_001755520.2:n.4883C=
XR_001755521.2:n.4883C=
XR_001755522.2:n.1637-2142C=
XR_001755525.2:n.1637-561C=
XR_001755526.2:n.1637-2142C=
XR_430441.4:n.1636+3247C=