Canonical Allele Identifier: CA5540329

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs772793239
• ExAC: 10:72517908 G / T
• gnomAD v2: 10-72517908-G-T
• gnomAD v4: 10-70758152-G-T
• MyVariant Identifiers: chr10:g.72517908G>T (hg19) ; chr10:g.70758152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758152G>T , CM000672.2:g.70758152G>T	GRCh38
NC_000010.10:g.72517908G>T , CM000672.1:g.72517908G>T	GRCh37
NC_000010.9:g.72187914G>T	NCBI36
NG_042147.1:g.90350G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3068-23G>T MANE Select	ENSP00000362303.1:n.3068-23G>T
ENST00000373207.1:c.3068-23G>T	ENSP00000362303.1:n.3068-23G>T
ENST00000373208.5:c.3077-23G>T	ENSP00000362304.1:n.3077-23G>T
NM_080722.3:c.3068-23G>T	NP_542453.2:n.3068-23G>T
NM_139155.2:c.3077-23G>T	NP_631894.2:n.3077-23G>T
XM_011539300.1:c.2567-23G>T	XP_011537602.1:n.2567-23G>T
XM_011539301.1:c.2141-23G>T	XP_011537603.1:n.2141-23G>T
XM_011539302.1:c.2141-23G>T	XP_011537604.1:n.2141-23G>T
XM_011539309.1:c.1637-23G>T	XP_011537611.1:n.1637-23G>T
NM_080722.4:c.3068-23G>T MANE Select	NP_542453.2:n.3068-23G>T
NM_139155.3:c.3077-23G>T	NP_631894.2:n.3077-23G>T
XM_011539300.2:c.2567-23G>T	XP_011537602.1:n.2567-23G>T
XM_011539301.2:c.2141-23G>T	XP_011537603.1:n.2141-23G>T
XM_011539302.2:c.2141-23G>T	XP_011537604.1:n.2141-23G>T