Canonical Allele Identifier: CA99549876

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs191683675
• gnomAD v2: 4-73179714-A-C
• gnomAD v3: 4-72313997-A-C
• gnomAD v4: 4-72313997-A-C
• MyVariant Identifiers: chr4:g.73179714A>C (hg19) ; chr4:g.72313997A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313997A>C , CM000666.2:g.72313997A>C	GRCh38
NC_000004.11:g.73179714A>C , CM000666.1:g.73179714A>C	GRCh37
NC_000004.10:g.73398578A>C	NCBI36
NG_046955.1:g.259803T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1600-175T>G MANE Select	ENSP00000286657.4:n.1600-175T>G
ENST00000286657.8:c.1600-175T>G	ENSP00000286657.4:n.1600-175T>G
ENST00000622135.1:c.1600-175T>G	ENSP00000480055.1:n.1600-175T>G
NM_014243.2:c.1600-175T>G	NP_055058.2:n.1600-175T>G
XM_011532421.1:c.1543-175T>G	XP_011530723.1:n.1543-175T>G
XM_011532422.1:c.1516-175T>G	XP_011530724.1:n.1516-175T>G
XM_011532423.1:c.958-175T>G	XP_011530725.1:n.958-175T>G
XM_011532424.1:c.868-175T>G	XP_011530726.1:n.868-175T>G
XM_011532421.2:c.1543-175T>G	XP_011530723.1:n.1543-175T>G
XM_011532422.3:c.1516-175T>G	XP_011530724.1:n.1516-175T>G
NM_014243.3:c.1600-175T>G MANE Select	NP_055058.2:n.1600-175T>G