Canonical Allele Identifier: CA2383990369
Gene: ADAMTS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.26837076T>G , CM000683.2:g.26837076T>G GRCh38
NC_000021.8:g.28209395T>G , CM000683.1:g.28209395T>G GRCh37
NC_000021.7:g.27131266T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000284984.8:c.*503A>C MANE Select ENSP00000284984.2:n.*503A>C
ENST00000451462.6:c.*503A>C ENSP00000403404.2:n.*503A>C
ENST00000517777.6:c.*503A>C ENSP00000429557.2:n.*503A>C
ENST00000676955.1:c.*503A>C ENSP00000503982.1:n.*503A>C
ENST00000677958.1:c.*1647A>C ENSP00000503777.1:n.*1647A>C
ENST00000678221.1:c.*503A>C ENSP00000503862.1:n.*503A>C
ENST00000679152.1:c.*503A>C ENSP00000504463.1:n.*503A>C
ENST00000679316.1:n.5048A>C
ENST00000284984.7:c.*503A>C ENSP00000284984.2:n.*503A>C
ENST00000464589.1:n.3929A>C
NM_006988.4:c.*503A>C NP_008919.3:n.*503A>C
NM_006988.5:c.*503A>C MANE Select NP_008919.3:n.*503A>C