Canonical Allele Identifier: CA190993838

Gene: ADAMTSL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.18458070T>C , CM000671.2:g.18458070T>C	GRCh38
NC_000009.11:g.18458068T>C , CM000671.1:g.18458068T>C	GRCh37
NC_000009.10:g.18448068T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680146.1:c.208-46759T>C	ENSP00000505591.1:n.208-46759T>C
XM_011518063.1:c.262-46759T>C	XP_011516365.1:n.262-46759T>C
XM_011518064.1:c.217-46759T>C	XP_011516366.1:n.217-46759T>C
XM_011518065.1:c.184-46759T>C	XP_011516367.1:n.184-46759T>C
XM_011518066.1:c.-387-46759T>C	XP_011516368.1:n.-387-46759T>C
XM_011518063.2:c.262-46759T>C	XP_011516365.1:n.262-46759T>C
XM_011518064.3:c.217-46759T>C	XP_011516366.1:n.217-46759T>C
XM_017015310.1:c.220-46759T>C	XP_016870799.1:n.220-46759T>C
XM_017015311.1:c.262-46759T>C	XP_016870800.1:n.262-46759T>C
XM_017015312.2:c.217-46759T>C	XP_016870801.1:n.217-46759T>C
XM_017015313.1:c.-387-46759T>C	XP_016870802.1:n.-387-46759T>C
XM_017015314.1:c.262-46759T>C	XP_016870803.1:n.262-46759T>C