Canonical Allele Identifier: CA2383990139
Gene: ADAMTS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.26836585C>T , CM000683.2:g.26836585C>T GRCh38
NC_000021.8:g.28208904C>T , CM000683.1:g.28208904C>T GRCh37
NC_000021.7:g.27130775C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000284984.8:c.*994G>A MANE Select ENSP00000284984.2:n.*994G>A
ENST00000451462.6:c.*994G>A ENSP00000403404.2:n.*994G>A
ENST00000517777.6:c.*994G>A ENSP00000429557.2:n.*994G>A
ENST00000676955.1:c.*994G>A ENSP00000503982.1:n.*994G>A
ENST00000677958.1:c.*2138G>A ENSP00000503777.1:n.*2138G>A
ENST00000678221.1:c.*994G>A ENSP00000503862.1:n.*994G>A
ENST00000679152.1:c.*994G>A ENSP00000504463.1:n.*994G>A
ENST00000679316.1:n.5539G>A
ENST00000284984.7:c.*994G>A ENSP00000284984.2:n.*994G>A
ENST00000464589.1:n.4420G>A
NM_006988.4:c.*994G>A NP_008919.3:n.*994G>A
NM_006988.5:c.*994G>A MANE Select NP_008919.3:n.*994G>A