Canonical Allele Identifier: CA377109067

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758181-A-T
• MyVariant Identifiers: chr10:g.72517937A>T (hg19) ; chr10:g.70758181A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758181A>T , CM000672.2:g.70758181A>T	GRCh38
NC_000010.10:g.72517937A>T , CM000672.1:g.72517937A>T	GRCh37
NC_000010.9:g.72187943A>T	NCBI36
NG_042147.1:g.90379A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3074A>T MANE Select	ENSP00000362303.1:p.His1025Leu
ENST00000373207.1:c.3074A>T	ENSP00000362303.1:p.His1025Leu
ENST00000373208.5:c.3083A>T	ENSP00000362304.1:p.His1028Leu
NM_080722.3:c.3074A>T	NP_542453.2:p.His1025Leu
NM_139155.2:c.3083A>T	NP_631894.2:p.His1028Leu
XM_011539300.1:c.2573A>T	XP_011537602.1:p.His858Leu
XM_011539301.1:c.2147A>T	XP_011537603.1:p.His716Leu
XM_011539302.1:c.2147A>T	XP_011537604.1:p.His716Leu
XM_011539309.1:c.1643A>T	XP_011537611.1:p.His548Leu
NM_080722.4:c.3074A>T MANE Select	NP_542453.2:p.His1025Leu
NM_139155.3:c.3083A>T	NP_631894.2:p.His1028Leu
XM_011539300.2:c.2573A>T	XP_011537602.1:p.His858Leu
XM_011539301.2:c.2147A>T	XP_011537603.1:p.His716Leu
XM_011539302.2:c.2147A>T	XP_011537604.1:p.His716Leu