Canonical Allele Identifier: CA2508103773
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24282751G>T , CM000669.2:g.24282751G>T GRCh38
NC_000007.13:g.24322370G>T , CM000669.1:g.24322370G>T GRCh37
NC_000007.12:g.24288895G>T NCBI36
NG_016148.1:g.3564G>T

Transcript Alleles

HGVS Amino-acid change
XM_017012910.1:c.42-27052C>A XP_016868399.1:n.42-27052C>A
XM_017012911.1:c.42-27052C>A XP_016868400.1:n.42-27052C>A
XR_001745121.1:n.473+36606C>A
XR_001745122.1:n.345-85722C>A
XR_001745123.1:n.473+36606C>A
XR_001745124.1:n.473+36606C>A
XR_001745125.1:n.473+36606C>A
XR_001745126.1:n.473+36606C>A
XR_001745127.1:n.345-27052C>A
XR_001745129.1:n.473+36606C>A
XR_001745130.1:n.473+36606C>A
XR_001745131.1:n.473+36606C>A
XR_001745132.1:n.473+36606C>A