Canonical Allele Identifier: CA5540328

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs764731637
• ExAC: 10:72517886 T / C
• gnomAD v3: 10-70758130-T-C
• gnomAD v4: 10-70758130-T-C
• MyVariant Identifiers: chr10:g.72517886T>C (hg19) ; chr10:g.70758130T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758130T>C , CM000672.2:g.70758130T>C	GRCh38
NC_000010.10:g.72517886T>C , CM000672.1:g.72517886T>C	GRCh37
NC_000010.9:g.72187892T>C	NCBI36
NG_042147.1:g.90328T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3067+39T>C MANE Select	ENSP00000362303.1:n.3067+39T>C
ENST00000373207.1:c.3067+39T>C	ENSP00000362303.1:n.3067+39T>C
ENST00000373208.5:c.3076+39T>C	ENSP00000362304.1:n.3076+39T>C
NM_080722.3:c.3067+39T>C	NP_542453.2:n.3067+39T>C
NM_139155.2:c.3076+39T>C	NP_631894.2:n.3076+39T>C
XM_011539300.1:c.2566+39T>C	XP_011537602.1:n.2566+39T>C
XM_011539301.1:c.2140+39T>C	XP_011537603.1:n.2140+39T>C
XM_011539302.1:c.2140+39T>C	XP_011537604.1:n.2140+39T>C
XM_011539309.1:c.1636+39T>C	XP_011537611.1:n.1636+39T>C
NM_080722.4:c.3067+39T>C MANE Select	NP_542453.2:n.3067+39T>C
NM_139155.3:c.3076+39T>C	NP_631894.2:n.3076+39T>C
XM_011539300.2:c.2566+39T>C	XP_011537602.1:n.2566+39T>C
XM_011539301.2:c.2140+39T>C	XP_011537603.1:n.2140+39T>C
XM_011539302.2:c.2140+39T>C	XP_011537604.1:n.2140+39T>C