Canonical Allele Identifier: CA2628214363

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711400C>A , CM000677.2:g.44711400C>A GRCh38
NC_000015.9:g.45003598C>A , CM000677.1:g.45003598C>A GRCh37
NC_000015.8:g.42790890C>A NCBI36
NG_012920.1:g.4914C>A
NG_012920.2:g.4924C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.43C>A (B2M)
XM_011521338.3:c.-634G>T (PATL2) XP_011519640.1:n.-634G>T
XM_011521339.3:c.-515G>T (PATL2) XP_011519641.1:n.-515G>T
XM_011521340.3:c.-456G>T (PATL2) XP_011519642.1:n.-456G>T
XM_011521343.3:c.-718G>T (PATL2) XP_011519645.1:n.-718G>T
XM_011521345.3:c.-689G>T (PATL2) XP_011519647.1:n.-689G>T