Canonical Allele Identifier: CA1541125423
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40319904T>A , CM000667.2:g.40319904T>A GRCh38
NC_000005.9:g.40320006T>A , CM000667.1:g.40320006T>A GRCh37
NC_000005.8:g.40355763T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925937.1:n.251-6912A>T
XR_925940.1:n.251-6912A>T
XR_001742646.1:n.478+681A>T
XR_001742647.1:n.205-1632A>T
XR_001742649.1:n.205-6912A>T
XR_925938.2:n.205-1632A>T