Canonical Allele Identifier: CA377108857

Gene: ADAMTS14

Linked Data

• MyVariant Identifiers: chr10:g.72517760G>C (hg19) ; chr10:g.70758004G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758004G>C , CM000672.2:g.70758004G>C	GRCh38
NC_000010.10:g.72517760G>C , CM000672.1:g.72517760G>C	GRCh37
NC_000010.9:g.72187766G>C	NCBI36
NG_042147.1:g.90202G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2980G>C MANE Select	ENSP00000362303.1:p.Val994Leu
ENST00000373207.1:c.2980G>C	ENSP00000362303.1:p.Val994Leu
ENST00000373208.5:c.2989G>C	ENSP00000362304.1:p.Val997Leu
NM_080722.3:c.2980G>C	NP_542453.2:p.Val994Leu
NM_139155.2:c.2989G>C	NP_631894.2:p.Val997Leu
XM_011539300.1:c.2479G>C	XP_011537602.1:p.Val827Leu
XM_011539301.1:c.2053G>C	XP_011537603.1:p.Val685Leu
XM_011539302.1:c.2053G>C	XP_011537604.1:p.Val685Leu
XM_011539308.1:c.*59G>C	XP_011537610.1:n.*59G>C
XM_011539309.1:c.1549G>C	XP_011537611.1:p.Val517Leu
NM_080722.4:c.2980G>C MANE Select	NP_542453.2:p.Val994Leu
NM_139155.3:c.2989G>C	NP_631894.2:p.Val997Leu
XM_011539300.2:c.2479G>C	XP_011537602.1:p.Val827Leu
XM_011539301.2:c.2053G>C	XP_011537603.1:p.Val685Leu
XM_011539302.2:c.2053G>C	XP_011537604.1:p.Val685Leu
XM_011539308.2:c.*59G>C	XP_011537610.1:n.*59G>C