Canonical Allele Identifier: CA377108842

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70757994-G-T
• MyVariant Identifiers: chr10:g.72517750G>T (hg19) ; chr10:g.70757994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70757994G>T , CM000672.2:g.70757994G>T	GRCh38
NC_000010.10:g.72517750G>T , CM000672.1:g.72517750G>T	GRCh37
NC_000010.9:g.72187756G>T	NCBI36
NG_042147.1:g.90192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2970G>T MANE Select	ENSP00000362303.1:p.Gln990His
ENST00000373207.1:c.2970G>T	ENSP00000362303.1:p.Gln990His
ENST00000373208.5:c.2979G>T	ENSP00000362304.1:p.Gln993His
NM_080722.3:c.2970G>T	NP_542453.2:p.Gln990His
NM_139155.2:c.2979G>T	NP_631894.2:p.Gln993His
XM_011539300.1:c.2469G>T	XP_011537602.1:p.Gln823His
XM_011539301.1:c.2043G>T	XP_011537603.1:p.Gln681His
XM_011539302.1:c.2043G>T	XP_011537604.1:p.Gln681His
XM_011539308.1:c.*49G>T	XP_011537610.1:n.*49G>T
XM_011539309.1:c.1539G>T	XP_011537611.1:p.Gln513His
NM_080722.4:c.2970G>T MANE Select	NP_542453.2:p.Gln990His
NM_139155.3:c.2979G>T	NP_631894.2:p.Gln993His
XM_011539300.2:c.2469G>T	XP_011537602.1:p.Gln823His
XM_011539301.2:c.2043G>T	XP_011537603.1:p.Gln681His
XM_011539302.2:c.2043G>T	XP_011537604.1:p.Gln681His
XM_011539308.2:c.*49G>T	XP_011537610.1:n.*49G>T