Canonical Allele Identifier: CA470056222

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs764725837
• gnomAD v2: 10-72517786-C-A
• gnomAD v3: 10-70758030-C-A
• gnomAD v4: 10-70758030-C-A
• MyVariant Identifiers: chr10:g.72517786C>A (hg19) ; chr10:g.70758030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758030C>A , CM000672.2:g.70758030C>A	GRCh38
NC_000010.10:g.72517786C>A , CM000672.1:g.72517786C>A	GRCh37
NC_000010.9:g.72187792C>A	NCBI36
NG_042147.1:g.90228C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3006C>A MANE Select	ENSP00000362303.1:p.Leu1002=
ENST00000373207.1:c.3006C>A	ENSP00000362303.1:p.Leu1002=
ENST00000373208.5:c.3015C>A	ENSP00000362304.1:p.Leu1005=
NM_080722.3:c.3006C>A	NP_542453.2:p.Leu1002=
NM_139155.2:c.3015C>A	NP_631894.2:p.Leu1005=
XM_011539300.1:c.2505C>A	XP_011537602.1:p.Leu835=
XM_011539301.1:c.2079C>A	XP_011537603.1:p.Leu693=
XM_011539302.1:c.2079C>A	XP_011537604.1:p.Leu693=
XM_011539308.1:c.*85C>A	XP_011537610.1:n.*85C>A
XM_011539309.1:c.1575C>A	XP_011537611.1:p.Leu525=
NM_080722.4:c.3006C>A MANE Select	NP_542453.2:p.Leu1002=
NM_139155.3:c.3015C>A	NP_631894.2:p.Leu1005=
XM_011539300.2:c.2505C>A	XP_011537602.1:p.Leu835=
XM_011539301.2:c.2079C>A	XP_011537603.1:p.Leu693=
XM_011539302.2:c.2079C>A	XP_011537604.1:p.Leu693=
XM_011539308.2:c.*85C>A	XP_011537610.1:n.*85C>A