Canonical Allele Identifier: CA190919168

Gene: ADAMTSL1

Linked Data

• dbSNP Id: rs1755289
• gnomAD v2: 9-17938351-T-G
• gnomAD v3: 9-17938353-T-G
• gnomAD v4: 9-17938353-T-G
• MyVariant Identifiers: chr9:g.17938351T>G (hg19) ; chr9:g.17938353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.17938353T>G , CM000671.2:g.17938353T>G	GRCh38
NC_000009.11:g.17938351T>G , CM000671.1:g.17938351T>G	GRCh37
NC_000009.10:g.17928351T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680146.1:c.87+31431T>G	ENSP00000505591.1:n.87+31431T>G
XM_011518063.1:c.141+5328T>G	XP_011516365.1:n.141+5328T>G
XM_011518064.1:c.96+31431T>G	XP_011516366.1:n.96+31431T>G
XM_011518065.1:c.63+5328T>G	XP_011516367.1:n.63+5328T>G
XM_011518063.2:c.141+5328T>G	XP_011516365.1:n.141+5328T>G
XM_011518064.3:c.96+31431T>G	XP_011516366.1:n.96+31431T>G
XM_017015311.1:c.141+5328T>G	XP_016870800.1:n.141+5328T>G
XM_017015312.2:c.96+31431T>G	XP_016870801.1:n.96+31431T>G
XM_017015314.1:c.141+5328T>G	XP_016870803.1:n.141+5328T>G