Canonical Allele Identifier: CA2956856

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs144291053
• ExAC: 4:73179345 T / C
• gnomAD v2: 4-73179345-T-C
• gnomAD v3: 4-72313628-T-C
• gnomAD v4: 4-72313628-T-C
• MyVariant Identifiers: chr4:g.73179345T>C (hg19) ; chr4:g.72313628T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313628T>C , CM000666.2:g.72313628T>C	GRCh38
NC_000004.11:g.73179345T>C , CM000666.1:g.73179345T>C	GRCh37
NC_000004.10:g.73398209T>C	NCBI36
NG_046955.1:g.260172A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000286657.10:c.1745+49A>G MANE Select	ENSP00000286657.4:n.1745+49A>G
ENST00000286657.8:c.1745+49A>G	ENSP00000286657.4:n.1745+49A>G
ENST00000622135.1:c.1745+49A>G	ENSP00000480055.1:n.1745+49A>G
NM_014243.2:c.1745+49A>G	NP_055058.2:n.1745+49A>G
XM_011532421.1:c.1688+49A>G	XP_011530723.1:n.1688+49A>G
XM_011532422.1:c.1661+49A>G	XP_011530724.1:n.1661+49A>G
XM_011532423.1:c.1103+49A>G	XP_011530725.1:n.1103+49A>G
XM_011532424.1:c.1013+49A>G	XP_011530726.1:n.1013+49A>G
XM_011532421.2:c.1688+49A>G	XP_011530723.1:n.1688+49A>G
XM_011532422.3:c.1661+49A>G	XP_011530724.1:n.1661+49A>G
NM_014243.3:c.1745+49A>G MANE Select	NP_055058.2:n.1745+49A>G