Canonical Allele Identifier: CA2573634203
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201029509G>C , CM000663.2:g.201029509G>C GRCh38
NC_000001.10:g.200998637G>C , CM000663.1:g.200998637G>C GRCh37
NC_000001.9:g.199265260G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_241170.3:n.423-1069G>C
XR_922405.1:n.961-1069G>C
XR_922406.1:n.1238+895G>C
XR_922407.1:n.1149-1069G>C
XR_922408.1:n.327-1069G>C
XR_922409.1:n.961-1069G>C
XR_922410.1:n.349-1069G>C
XR_922411.1:n.941-1069G>C
XR_922412.1:n.1154+895G>C
XR_922413.1:n.1050+895G>C
XR_922414.1:n.258-1069G>C
XR_922415.1:n.961-1069G>C
XR_922416.1:n.267-1069G>C
XR_922417.1:n.845-1069G>C
XR_922418.1:n.961-1069G>C
XR_922419.1:n.960+3890G>C
XR_922420.1:n.961-1069G>C
XR_001738364.1:n.609+895G>C
XR_001738365.1:n.520-1069G>C
XR_001738366.1:n.332-1069G>C
XR_001738367.1:n.525+895G>C
XR_001738368.1:n.421+895G>C
XR_001738369.1:n.332-1069G>C
XR_001738370.1:n.332-1069G>C
XR_001738371.1:n.331+3890G>C
XR_001738372.1:n.332-1069G>C
XR_922405.3:n.1071-1069G>C
XR_922407.3:n.1259-1069G>C
XR_922408.2:n.332-1069G>C
XR_922410.2:n.341-1069G>C
XR_922414.2:n.250-1069G>C
XR_922416.2:n.259-1069G>C
XR_922417.3:n.955-1069G>C