Canonical Allele Identifier: CA2615728922

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102798196C>T , CM000673.2:g.102798196C>T GRCh38
NC_000011.9:g.102668927C>T , CM000673.1:g.102668927C>T GRCh37
NC_000011.8:g.102174137C>T NCBI36
NG_011740.1:g.5040G>A
NG_011740.2:g.5040G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371455.7:n.423+74C>T (WTAPP1)
ENST00000525739.6:n.682+74C>T (WTAPP1)
ENST00000544704.1:n.443+74C>T (WTAPP1)
NM_001145938.1:c.-150G>A (MMP1) NP_001139410.1:n.-150G>A
NM_002421.3:c.-104G>A (MMP1) NP_002412.1:n.-104G>A
NR_038390.1:n.682+74C>T (WTAPP1)