Canonical Allele Identifier: CA2774746050

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24284031C>G , CM000669.2:g.24284031C>G	GRCh38
NC_000007.13:g.24323650C>G , CM000669.1:g.24323650C>G	GRCh37
NC_000007.12:g.24290175C>G	NCBI36
NG_016148.1:g.4844C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-28332G>C	XP_016868399.1:n.42-28332G>C
XM_017012911.1:c.42-28332G>C	XP_016868400.1:n.42-28332G>C
XR_001745121.1:n.473+35326G>C
XR_001745122.1:n.345-87002G>C
XR_001745123.1:n.473+35326G>C
XR_001745124.1:n.473+35326G>C
XR_001745125.1:n.473+35326G>C
XR_001745126.1:n.473+35326G>C
XR_001745127.1:n.345-28332G>C
XR_001745129.1:n.473+35326G>C
XR_001745130.1:n.473+35326G>C
XR_001745131.1:n.473+35326G>C
XR_001745132.1:n.473+35326G>C