Canonical Allele Identifier: CA1079609442
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.104734216A>T , CM000667.2:g.104734216A>T GRCh38
NC_000005.9:g.104069917A>T , CM000667.1:g.104069917A>T GRCh37
NC_000005.8:g.104097816A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948645.1:n.493+20607T>A
XR_948646.1:n.309+29064T>A
XR_948647.1:n.309+29064T>A