Canonical Allele Identifier: CA14858129

Gene: ADAMTS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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