Canonical Allele Identifier: CA99549854

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs942121391
• gnomAD v2: 4-73179335-A-G
• gnomAD v3: 4-72313618-A-G
• gnomAD v4: 4-72313618-A-G
• MyVariant Identifiers: chr4:g.73179335A>G (hg19) ; chr4:g.72313618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313618A>G , CM000666.2:g.72313618A>G	GRCh38
NC_000004.11:g.73179335A>G , CM000666.1:g.73179335A>G	GRCh37
NC_000004.10:g.73398199A>G	NCBI36
NG_046955.1:g.260182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1745+59T>C MANE Select	ENSP00000286657.4:n.1745+59T>C
ENST00000286657.8:c.1745+59T>C	ENSP00000286657.4:n.1745+59T>C
ENST00000622135.1:c.1745+59T>C	ENSP00000480055.1:n.1745+59T>C
NM_014243.2:c.1745+59T>C	NP_055058.2:n.1745+59T>C
XM_011532421.1:c.1688+59T>C	XP_011530723.1:n.1688+59T>C
XM_011532422.1:c.1661+59T>C	XP_011530724.1:n.1661+59T>C
XM_011532423.1:c.1103+59T>C	XP_011530725.1:n.1103+59T>C
XM_011532424.1:c.1013+59T>C	XP_011530726.1:n.1013+59T>C
XM_011532421.2:c.1688+59T>C	XP_011530723.1:n.1688+59T>C
XM_011532422.3:c.1661+59T>C	XP_011530724.1:n.1661+59T>C
NM_014243.3:c.1745+59T>C MANE Select	NP_055058.2:n.1745+59T>C