Canonical Allele Identifier: CA2685280245

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141927387C>A , CM000669.2:g.141927387C>A GRCh38
NC_000007.13:g.141627187C>A , CM000669.1:g.141627187C>A GRCh37
NC_000007.12:g.141273656C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000546910.6:c.*2717G>T (CLEC5A) MANE Select ENSP00000449999.1:n.*2717G>T
ENST00000465654.5:c.-179-18434C>A (MGAM) ENSP00000419372.1:n.-179-18434C>A
ENST00000497554.1:n.37-2390C>A (MGAM)
ENST00000546910.5:c.*2717G>T (CLEC5A) ENSP00000449999.1:n.*2717G>T
NM_001301167.1:c.*2717G>T (CLEC5A) NP_001288096.1:n.*2717G>T
NM_013252.2:c.*2717G>T (CLEC5A) NP_037384.1:n.*2717G>T
XM_011515783.1:c.*24+7543C>A (OR9A4) XP_011514085.1:n.*24+7543C>A
XM_011515995.1:c.*2717G>T (CLEC5A) XP_011514297.1:n.*2717G>T
XR_927428.1:n.2668G>T (CLEC5A)
XM_011515995.2:c.*2717G>T (CLEC5A) XP_011514297.1:n.*2717G>T
XM_017011915.1:c.*2717G>T (CLEC5A) XP_016867404.1:n.*2717G>T
XM_017011917.1:c.*2785G>T (CLEC5A) XP_016867406.1:n.*2785G>T
NM_013252.3:c.*2717G>T (CLEC5A) MANE Select NP_037384.1:n.*2717G>T
NM_001301167.2:c.*2717G>T (CLEC5A) NP_001288096.1:n.*2717G>T