Canonical Allele Identifier: CA2403722522
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36129897G= , CM000684.2:g.36129897G= GRCh38
NC_000022.10:g.36525945G= , CM000684.1:g.36525945G= GRCh37
NC_000022.9:g.34855891G= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430441.2:n.1547+3265C=
XR_938219.1:n.3039C=
XR_938220.1:n.3039C=
XR_938221.1:n.1471+3965C=
XR_001755516.2:n.4901C=
XR_001755517.2:n.3128C=
XR_001755518.2:n.4901C=
XR_001755519.2:n.4901C=
XR_001755520.2:n.4901C=
XR_001755521.2:n.4901C=
XR_001755522.2:n.1637-2124C=
XR_001755525.2:n.1637-543C=
XR_001755526.2:n.1637-2124C=
XR_430441.4:n.1636+3265C=