Canonical Allele Identifier: CA190925110
Gene: ADAMTSL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.17979580T>C , CM000671.2:g.17979580T>C GRCh38
NC_000009.11:g.17979578T>C , CM000671.1:g.17979578T>C GRCh37
NC_000009.10:g.17969578T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000680146.1:c.87+72658T>C ENSP00000505591.1:n.87+72658T>C
XM_011518063.1:c.141+46555T>C XP_011516365.1:n.141+46555T>C
XM_011518064.1:c.96+72658T>C XP_011516366.1:n.96+72658T>C
XM_011518065.1:c.63+46555T>C XP_011516367.1:n.63+46555T>C
XM_011518063.2:c.141+46555T>C XP_011516365.1:n.141+46555T>C
XM_011518064.3:c.96+72658T>C XP_011516366.1:n.96+72658T>C
XM_017015311.1:c.141+46555T>C XP_016870800.1:n.141+46555T>C
XM_017015312.2:c.96+72658T>C XP_016870801.1:n.96+72658T>C
XM_017015314.1:c.141+46555T>C XP_016870803.1:n.141+46555T>C