Canonical Allele Identifier: CA99549842

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs532988833
• gnomAD v3: 4-72313540-T-G
• gnomAD v4: 4-72313540-T-G
• MyVariant Identifiers: chr4:g.73179257T>G (hg19) ; chr4:g.72313540T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313540T>G , CM000666.2:g.72313540T>G	GRCh38
NC_000004.11:g.73179257T>G , CM000666.1:g.73179257T>G	GRCh37
NC_000004.10:g.73398121T>G	NCBI36
NG_046955.1:g.260260A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1745+137A>C MANE Select	ENSP00000286657.4:n.1745+137A>C
ENST00000286657.8:c.1745+137A>C	ENSP00000286657.4:n.1745+137A>C
ENST00000622135.1:c.1745+137A>C	ENSP00000480055.1:n.1745+137A>C
NM_014243.2:c.1745+137A>C	NP_055058.2:n.1745+137A>C
XM_011532421.1:c.1688+137A>C	XP_011530723.1:n.1688+137A>C
XM_011532422.1:c.1661+137A>C	XP_011530724.1:n.1661+137A>C
XM_011532423.1:c.1103+137A>C	XP_011530725.1:n.1103+137A>C
XM_011532424.1:c.1013+137A>C	XP_011530726.1:n.1013+137A>C
XM_011532421.2:c.1688+137A>C	XP_011530723.1:n.1688+137A>C
XM_011532422.3:c.1661+137A>C	XP_011530724.1:n.1661+137A>C
NM_014243.3:c.1745+137A>C MANE Select	NP_055058.2:n.1745+137A>C