Canonical Allele Identifier: CA1748228048

Linked Data

dbSNP Id: rs1802327088

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141927356G>A , CM000669.2:g.141927356G>A GRCh38
NC_000007.13:g.141627156G>A , CM000669.1:g.141627156G>A GRCh37
NC_000007.12:g.141273625G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-179-18465G>A (MGAM) ENSP00000419372.1:n.-179-18465G>A
ENST00000497554.1:n.37-2421G>A (MGAM)
XM_011515783.1:c.*24+7512G>A (OR9A4) XP_011514085.1:n.*24+7512G>A
XM_011515995.2:c.*2748C>T (CLEC5A) XP_011514297.1:n.*2748C>T
XM_017011915.1:c.*2748C>T (CLEC5A) XP_016867404.1:n.*2748C>T
XM_017011917.1:c.*2816C>T (CLEC5A) XP_016867406.1:n.*2816C>T