Canonical Allele Identifier: CA377108905

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758026-G-A
• MyVariant Identifiers: chr10:g.72517782G>A (hg19) ; chr10:g.70758026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758026G>A , CM000672.2:g.70758026G>A	GRCh38
NC_000010.10:g.72517782G>A , CM000672.1:g.72517782G>A	GRCh37
NC_000010.9:g.72187788G>A	NCBI36
NG_042147.1:g.90224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3002G>A MANE Select	ENSP00000362303.1:p.Ser1001Asn
ENST00000373207.1:c.3002G>A	ENSP00000362303.1:p.Ser1001Asn
ENST00000373208.5:c.3011G>A	ENSP00000362304.1:p.Ser1004Asn
NM_080722.3:c.3002G>A	NP_542453.2:p.Ser1001Asn
NM_139155.2:c.3011G>A	NP_631894.2:p.Ser1004Asn
XM_011539300.1:c.2501G>A	XP_011537602.1:p.Ser834Asn
XM_011539301.1:c.2075G>A	XP_011537603.1:p.Ser692Asn
XM_011539302.1:c.2075G>A	XP_011537604.1:p.Ser692Asn
XM_011539308.1:c.*81G>A	XP_011537610.1:n.*81G>A
XM_011539309.1:c.1571G>A	XP_011537611.1:p.Ser524Asn
NM_080722.4:c.3002G>A MANE Select	NP_542453.2:p.Ser1001Asn
NM_139155.3:c.3011G>A	NP_631894.2:p.Ser1004Asn
XM_011539300.2:c.2501G>A	XP_011537602.1:p.Ser834Asn
XM_011539301.2:c.2075G>A	XP_011537603.1:p.Ser692Asn
XM_011539302.2:c.2075G>A	XP_011537604.1:p.Ser692Asn
XM_011539308.2:c.*81G>A	XP_011537610.1:n.*81G>A