Canonical Allele Identifier: CA1630997

Gene: HAAO MTA3

Linked Data

• ClinVar Variation Id: 403727
• ClinVar RCV Id: RCV000505810 ; RCV000496188
• dbSNP Id: rs527656756
• ExAC: 2:42997283 C / CA
• gnomAD v2: 2-42997283-C-CA
• gnomAD v3: 2-42770143-C-CA
• gnomAD v4: 2-42770143-C-CA
• MyVariant Identifiers: chr2:g.42997284dupA (hg19) ; chr2:g.42997283_42997284insA (hg19) ; chr2:g.42770144dupA (hg38) ; chr2:g.42770143_42770144insA (hg38)
• PubMed: PMID:28792876

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.42770144dup , CM000664.2:g.42770144dup	GRCh38
NC_000002.11:g.42997284dup , CM000664.1:g.42997284dup	GRCh37
NC_000002.10:g.42850788dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294973.11:c.483dup (HAAO) MANE Select	ENSP00000294973.6:p.Asp162Ter
ENST00000294973.10:c.483dup (HAAO)	ENSP00000294973.6:p.Asp162Ter
ENST00000402698.6:n.827dup (HAAO)
ENST00000404451.7:n.388dup (HAAO)
ENST00000406924.6:n.846dup (HAAO)
ENST00000431905.1:c.381dup (HAAO)	ENSP00000412601.1:p.Asp128Ter
NM_012205.2:c.483dup (HAAO)	NP_036337.2:p.Asp162Ter
XM_005264230.2:c.483dup (HAAO)	XP_005264287.1:p.Gly162TrpfsTer2
XM_011532729.1:c.393dup (HAAO)	XP_011531031.1:p.Asp132Ter
XM_011532730.1:c.381dup (HAAO)	XP_011531032.1:p.Asp128Ter
XM_011532731.1:c.393dup (HAAO)	XP_011531033.1:p.Gly132TrpfsTer2
XR_939697.1:n.1791-13771dup (MTA3)
XM_005264230.4:c.483dup (HAAO)	XP_005264287.1:p.Gly162TrpfsTer2
XM_011532729.3:c.393dup (HAAO)	XP_011531031.1:p.Asp132Ter
XM_011532730.3:c.381dup (HAAO)	XP_011531032.1:p.Asp128Ter
XM_011532731.3:c.393dup (HAAO)	XP_011531033.1:p.Gly132TrpfsTer2
XM_017003717.2:c.381dup (HAAO)	XP_016859206.1:p.Gly128TrpfsTer2
XM_024452774.1:c.483dup (HAAO)	XP_024308542.1:p.Gly162TrpfsTer2
XM_024452775.1:c.381dup (HAAO)	XP_024308543.1:p.Gly128TrpfsTer2
XR_001738859.2:n.1794-13771dup (MTA3)
XR_939697.3:n.1794-13771dup (MTA3)
NM_012205.3:c.483dup (HAAO) MANE Select	NP_036337.2:p.Asp162Ter