Canonical Allele Identifier: CA2615728923

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102798197T>C , CM000673.2:g.102798197T>C GRCh38
NC_000011.9:g.102668928T>C , CM000673.1:g.102668928T>C GRCh37
NC_000011.8:g.102174138T>C NCBI36
NG_011740.1:g.5039A>G
NG_011740.2:g.5039A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371455.7:n.423+75T>C (WTAPP1)
ENST00000525739.6:n.682+75T>C (WTAPP1)
ENST00000544704.1:n.443+75T>C (WTAPP1)
NM_001145938.1:c.-151A>G (MMP1) NP_001139410.1:n.-151A>G
NM_002421.3:c.-105A>G (MMP1) NP_002412.1:n.-105A>G
NR_038390.1:n.682+75T>C (WTAPP1)