Canonical Allele Identifier: CA357430690
Gene: ADAMTS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313675A>G , CM000666.2:g.72313675A>G GRCh38
NC_000004.11:g.73179392A>G , CM000666.1:g.73179392A>G GRCh37
NC_000004.10:g.73398256A>G NCBI36
NG_046955.1:g.260125T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1745+2T>C MANE Select ENSP00000286657.4:n.1745+2T>C
ENST00000286657.8:c.1745+2T>C ENSP00000286657.4:n.1745+2T>C
ENST00000622135.1:c.1745+2T>C ENSP00000480055.1:n.1745+2T>C
NM_014243.2:c.1745+2T>C NP_055058.2:n.1745+2T>C
XM_011532421.1:c.1688+2T>C XP_011530723.1:n.1688+2T>C
XM_011532422.1:c.1661+2T>C XP_011530724.1:n.1661+2T>C
XM_011532423.1:c.1103+2T>C XP_011530725.1:n.1103+2T>C
XM_011532424.1:c.1013+2T>C XP_011530726.1:n.1013+2T>C
XM_011532421.2:c.1688+2T>C XP_011530723.1:n.1688+2T>C
XM_011532422.3:c.1661+2T>C XP_011530724.1:n.1661+2T>C
NM_014243.3:c.1745+2T>C MANE Select NP_055058.2:n.1745+2T>C