Canonical Allele Identifier: CA202670985
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7102293T>A , CM000672.2:g.7102293T>A GRCh38
NC_000010.10:g.7144255T>A , CM000672.1:g.7144255T>A GRCh37
NC_000010.9:g.7184261T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930623.1:n.172+17338A>T
XR_930624.1:n.170+17338A>T
XR_930625.1:n.171+17338A>T
XR_930626.1:n.167+17338A>T
XR_930627.1:n.172+17338A>T
XR_001747351.1:n.363+17338A>T
XR_001747352.1:n.363+17338A>T
XR_001747354.1:n.363+17338A>T
XR_930623.2:n.363+17338A>T
XR_930624.2:n.363+17338A>T
XR_930625.2:n.363+17338A>T
XR_930626.2:n.363+17338A>T
XR_930627.2:n.363+17338A>T