Canonical Allele Identifier: CA799771631
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89685446C>A , CM000666.2:g.89685446C>A GRCh38
NC_000004.11:g.90606597C>A , CM000666.1:g.90606597C>A GRCh37
NC_000004.10:g.90825620C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938982.1:n.1812C>A
XR_938983.1:n.1812C>A
XR_938984.1:n.1212C>A
XR_938985.1:n.244C>A
XR_938986.1:n.435-5839C>A
XR_938987.1:n.689-5839C>A
XR_938988.1:n.555-5839C>A
XR_938989.1:n.210+3762C>A
XR_938990.1:n.299-5839C>A
XR_938991.1:n.435-34380C>A
XR_938993.1:n.211-1452C>A
XR_938994.1:n.780-5839C>A
XR_938995.1:n.614-5839C>A
XR_001741764.1:n.1812C>A
XR_001741765.1:n.1230C>A
XR_001741766.1:n.233-231C>A
XR_938982.2:n.1812C>A
XR_938984.2:n.1234C>A
XR_938985.2:n.266C>A
XR_938986.2:n.460-5839C>A
XR_938987.2:n.749-5839C>A
XR_938989.2:n.232+3762C>A