Canonical Allele Identifier: CA5540316

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs10999516
• ExAC: 10:72517830 G / A
• gnomAD v2: 10-72517830-G-A
• gnomAD v3: 10-70758074-G-A
• gnomAD v4: 10-70758074-G-A
• MyVariant Identifiers: chr10:g.72517830G>A (hg19) ; chr10:g.70758074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758074G>A , CM000672.2:g.70758074G>A	GRCh38
NC_000010.10:g.72517830G>A , CM000672.1:g.72517830G>A	GRCh37
NC_000010.9:g.72187836G>A	NCBI36
NG_042147.1:g.90272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3050G>A MANE Select	ENSP00000362303.1:p.Ser1017Asn
ENST00000373207.1:c.3050G>A	ENSP00000362303.1:p.Ser1017Asn
ENST00000373208.5:c.3059G>A	ENSP00000362304.1:p.Ser1020Asn
NM_080722.3:c.3050G>A	NP_542453.2:p.Ser1017Asn
NM_139155.2:c.3059G>A	NP_631894.2:p.Ser1020Asn
XM_011539300.1:c.2549G>A	XP_011537602.1:p.Ser850Asn
XM_011539301.1:c.2123G>A	XP_011537603.1:p.Ser708Asn
XM_011539302.1:c.2123G>A	XP_011537604.1:p.Ser708Asn
XM_011539309.1:c.1619G>A	XP_011537611.1:p.Ser540Asn
NM_080722.4:c.3050G>A MANE Select	NP_542453.2:p.Ser1017Asn
NM_139155.3:c.3059G>A	NP_631894.2:p.Ser1020Asn
XM_011539300.2:c.2549G>A	XP_011537602.1:p.Ser850Asn
XM_011539301.2:c.2123G>A	XP_011537603.1:p.Ser708Asn
XM_011539302.2:c.2123G>A	XP_011537604.1:p.Ser708Asn