Canonical Allele Identifier: CA377108912

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs1410621220
• gnomAD v2: 10-72517785-T-C
• gnomAD v4: 10-70758029-T-C
• MyVariant Identifiers: chr10:g.72517785T>C (hg19) ; chr10:g.70758029T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758029T>C , CM000672.2:g.70758029T>C	GRCh38
NC_000010.10:g.72517785T>C , CM000672.1:g.72517785T>C	GRCh37
NC_000010.9:g.72187791T>C	NCBI36
NG_042147.1:g.90227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3005T>C MANE Select	ENSP00000362303.1:p.Leu1002Pro
ENST00000373207.1:c.3005T>C	ENSP00000362303.1:p.Leu1002Pro
ENST00000373208.5:c.3014T>C	ENSP00000362304.1:p.Leu1005Pro
NM_080722.3:c.3005T>C	NP_542453.2:p.Leu1002Pro
NM_139155.2:c.3014T>C	NP_631894.2:p.Leu1005Pro
XM_011539300.1:c.2504T>C	XP_011537602.1:p.Leu835Pro
XM_011539301.1:c.2078T>C	XP_011537603.1:p.Leu693Pro
XM_011539302.1:c.2078T>C	XP_011537604.1:p.Leu693Pro
XM_011539308.1:c.*84T>C	XP_011537610.1:n.*84T>C
XM_011539309.1:c.1574T>C	XP_011537611.1:p.Leu525Pro
NM_080722.4:c.3005T>C MANE Select	NP_542453.2:p.Leu1002Pro
NM_139155.3:c.3014T>C	NP_631894.2:p.Leu1005Pro
XM_011539300.2:c.2504T>C	XP_011537602.1:p.Leu835Pro
XM_011539301.2:c.2078T>C	XP_011537603.1:p.Leu693Pro
XM_011539302.2:c.2078T>C	XP_011537604.1:p.Leu693Pro
XM_011539308.2:c.*84T>C	XP_011537610.1:n.*84T>C