Canonical Allele Identifier: CA377109019

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs1169781362
• gnomAD v2: 10-72517838-G-A
• gnomAD v3: 10-70758082-G-A
• gnomAD v4: 10-70758082-G-A
• MyVariant Identifiers: chr10:g.72517838G>A (hg19) ; chr10:g.70758082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758082G>A , CM000672.2:g.70758082G>A	GRCh38
NC_000010.10:g.72517838G>A , CM000672.1:g.72517838G>A	GRCh37
NC_000010.9:g.72187844G>A	NCBI36
NG_042147.1:g.90280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3058G>A MANE Select	ENSP00000362303.1:p.Ala1020Thr
ENST00000373207.1:c.3058G>A	ENSP00000362303.1:p.Ala1020Thr
ENST00000373208.5:c.3067G>A	ENSP00000362304.1:p.Ala1023Thr
NM_080722.3:c.3058G>A	NP_542453.2:p.Ala1020Thr
NM_139155.2:c.3067G>A	NP_631894.2:p.Ala1023Thr
XM_011539300.1:c.2557G>A	XP_011537602.1:p.Ala853Thr
XM_011539301.1:c.2131G>A	XP_011537603.1:p.Ala711Thr
XM_011539302.1:c.2131G>A	XP_011537604.1:p.Ala711Thr
XM_011539309.1:c.1627G>A	XP_011537611.1:p.Ala543Thr
NM_080722.4:c.3058G>A MANE Select	NP_542453.2:p.Ala1020Thr
NM_139155.3:c.3067G>A	NP_631894.2:p.Ala1023Thr
XM_011539300.2:c.2557G>A	XP_011537602.1:p.Ala853Thr
XM_011539301.2:c.2131G>A	XP_011537603.1:p.Ala711Thr
XM_011539302.2:c.2131G>A	XP_011537604.1:p.Ala711Thr