Canonical Allele Identifier: CA2774745999
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24282929A>G , CM000669.2:g.24282929A>G GRCh38
NC_000007.13:g.24322548A>G , CM000669.1:g.24322548A>G GRCh37
NC_000007.12:g.24289073A>G NCBI36
NG_016148.1:g.3742A>G

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.42-27230T>C XP_016868399.1:n.42-27230T>C
XM_017012911.1:c.42-27230T>C XP_016868400.1:n.42-27230T>C
XR_001745121.1:n.473+36428T>C
XR_001745122.1:n.345-85900T>C
XR_001745123.1:n.473+36428T>C
XR_001745124.1:n.473+36428T>C
XR_001745125.1:n.473+36428T>C
XR_001745126.1:n.473+36428T>C
XR_001745127.1:n.345-27230T>C
XR_001745129.1:n.473+36428T>C
XR_001745130.1:n.473+36428T>C
XR_001745131.1:n.473+36428T>C
XR_001745132.1:n.473+36428T>C