Canonical Allele Identifier: CA2682049030
Gene:

Linked Data

gnomAD v4: 7-24291912-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24291912G>T , CM000669.2:g.24291912G>T GRCh38
NC_000007.13:g.24331531G>T , CM000669.1:g.24331531G>T GRCh37
NC_000007.12:g.24298056G>T NCBI36
NG_016148.1:g.12725G>T

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.41+27445C>A XP_016868399.1:n.41+27445C>A
XM_017012911.1:c.41+27445C>A XP_016868400.1:n.41+27445C>A
XR_001745121.1:n.473+27445C>A
XR_001745122.1:n.345-94883C>A
XR_001745123.1:n.473+27445C>A
XR_001745124.1:n.473+27445C>A
XR_001745125.1:n.473+27445C>A
XR_001745126.1:n.473+27445C>A
XR_001745127.1:n.345-36213C>A
XR_001745129.1:n.473+27445C>A
XR_001745130.1:n.473+27445C>A
XR_001745131.1:n.473+27445C>A
XR_001745132.1:n.473+27445C>A