Canonical Allele Identifier: CA1694873479
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24283826G>A , CM000669.2:g.24283826G>A GRCh38
NC_000007.13:g.24323445G>A , CM000669.1:g.24323445G>A GRCh37
NC_000007.12:g.24289970G>A NCBI36
NG_016148.1:g.4639G>A

Transcript Alleles

HGVS Amino-acid change
XM_017012910.1:c.42-28127C>T XP_016868399.1:n.42-28127C>T
XM_017012911.1:c.42-28127C>T XP_016868400.1:n.42-28127C>T
XR_001745121.1:n.473+35531C>T
XR_001745122.1:n.345-86797C>T
XR_001745123.1:n.473+35531C>T
XR_001745124.1:n.473+35531C>T
XR_001745125.1:n.473+35531C>T
XR_001745126.1:n.473+35531C>T
XR_001745127.1:n.345-28127C>T
XR_001745129.1:n.473+35531C>T
XR_001745130.1:n.473+35531C>T
XR_001745131.1:n.473+35531C>T
XR_001745132.1:n.473+35531C>T