Canonical Allele Identifier: CA377109078

Gene: ADAMTS14

Linked Data

• MyVariant Identifiers: chr10:g.72517942A>C (hg19) ; chr10:g.70758186A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758186A>C , CM000672.2:g.70758186A>C	GRCh38
NC_000010.10:g.72517942A>C , CM000672.1:g.72517942A>C	GRCh37
NC_000010.9:g.72187948A>C	NCBI36
NG_042147.1:g.90384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3079A>C MANE Select	ENSP00000362303.1:p.Asn1027His
ENST00000373207.1:c.3079A>C	ENSP00000362303.1:p.Asn1027His
ENST00000373208.5:c.3088A>C	ENSP00000362304.1:p.Asn1030His
NM_080722.3:c.3079A>C	NP_542453.2:p.Asn1027His
NM_139155.2:c.3088A>C	NP_631894.2:p.Asn1030His
XM_011539300.1:c.2578A>C	XP_011537602.1:p.Asn860His
XM_011539301.1:c.2152A>C	XP_011537603.1:p.Asn718His
XM_011539302.1:c.2152A>C	XP_011537604.1:p.Asn718His
XM_011539309.1:c.1648A>C	XP_011537611.1:p.Asn550His
NM_080722.4:c.3079A>C MANE Select	NP_542453.2:p.Asn1027His
NM_139155.3:c.3088A>C	NP_631894.2:p.Asn1030His
XM_011539300.2:c.2578A>C	XP_011537602.1:p.Asn860His
XM_011539301.2:c.2152A>C	XP_011537603.1:p.Asn718His
XM_011539302.2:c.2152A>C	XP_011537604.1:p.Asn718His