Canonical Allele Identifier: CA552479082

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1217293838
• gnomAD v2: 4-73179760-A-G
• gnomAD v3: 4-72314043-A-G
• gnomAD v4: 4-72314043-A-G
• MyVariant Identifiers: chr4:g.73179760A>G (hg19) ; chr4:g.72314043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72314043A>G , CM000666.2:g.72314043A>G	GRCh38
NC_000004.11:g.73179760A>G , CM000666.1:g.73179760A>G	GRCh37
NC_000004.10:g.73398624A>G	NCBI36
NG_046955.1:g.259757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1600-221T>C MANE Select	ENSP00000286657.4:n.1600-221T>C
ENST00000286657.8:c.1600-221T>C	ENSP00000286657.4:n.1600-221T>C
ENST00000622135.1:c.1600-221T>C	ENSP00000480055.1:n.1600-221T>C
NM_014243.2:c.1600-221T>C	NP_055058.2:n.1600-221T>C
XM_011532421.1:c.1543-221T>C	XP_011530723.1:n.1543-221T>C
XM_011532422.1:c.1516-221T>C	XP_011530724.1:n.1516-221T>C
XM_011532423.1:c.958-221T>C	XP_011530725.1:n.958-221T>C
XM_011532424.1:c.868-221T>C	XP_011530726.1:n.868-221T>C
XM_011532421.2:c.1543-221T>C	XP_011530723.1:n.1543-221T>C
XM_011532422.3:c.1516-221T>C	XP_011530724.1:n.1516-221T>C
NM_014243.3:c.1600-221T>C MANE Select	NP_055058.2:n.1600-221T>C