Canonical Allele Identifier: CA2628140812

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599513C>A , CM000677.2:g.43599513C>A GRCh38
NC_000015.9:g.43891711C>A , CM000677.1:g.43891711C>A GRCh37
NC_000015.8:g.41679003C>A NCBI36
NG_011636.1:g.24288G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411560.1:n.122C>A (CKMT1B)
ENST00000450892.6:c.*159G>T (STRC) ENSP00000401513.2:n.*159G>T
XM_011521277.1:c.*159G>T (STRC) XP_011519579.1:n.*159G>T
XM_011521278.1:c.*159G>T (STRC) XP_011519580.1:n.*159G>T
XM_011521279.1:c.*159G>T (STRC) XP_011519581.1:n.*159G>T