Canonical Allele Identifier: CA337220274

Gene: ATP2B3

Linked Data

• ClinVar Variation Id: 242886
• ClinVar RCV Id: RCV000491103 ; RCV001329442
• dbSNP Id: rs782596945
• gnomAD v4: X-153580229-G-T
• MyVariant Identifiers: chrX:g.152845687G>T (hg19) ; chrX:g.153580229G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153580229G>T , CM000685.2:g.153580229G>T	GRCh38
NC_000023.10:g.152845687G>T , CM000685.1:g.152845687G>T	GRCh37
NC_000023.9:g.152498881G>T	NCBI36
NG_015896.1:g.49108G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359149.9:c.*226G>T	ENSP00000352062.3:n.*226G>T
ENST00000496610.2:c.3681G>T	ENSP00000516173.1:p.Lys1227Asn
ENST00000705863.1:c.680G>T
ENST00000705864.1:c.465G>T	ENSP00000516176.1:p.Lys155Asn
ENST00000263519.5:c.3594G>T MANE Select	ENSP00000263519.4:p.Lys1198Asn
ENST00000359149.8:c.*226G>T	ENSP00000352062.3:n.*226G>T
ENST00000683064.1:c.*1326G>T	ENSP00000508126.1:n.*1326G>T
ENST00000263519.4:c.3594G>T	ENSP00000263519.4:p.Lys1198Asn
ENST00000349466.6:c.3594G>T	ENSP00000343886.2:p.Lys1198Asn
ENST00000359149.7:c.*226G>T	ENSP00000352062.3:n.*226G>T
ENST00000370186.5:c.*226G>T	ENSP00000359205.1:n.*226G>T
ENST00000496610.1:n.294G>T
NM_001001344.2:c.3594G>T	NP_001001344.1:p.Lys1198Asn
NM_021949.3:c.*226G>T	NP_068768.2:n.*226G>T
XM_005274689.2:c.3681G>T	XP_005274746.1:p.Lys1227Asn
XM_005274690.2:c.3594G>T	XP_005274747.1:p.Lys1198Asn
XM_005274691.2:c.3552G>T	XP_005274748.1:p.Lys1184Asn
XM_005274692.2:c.*226G>T	XP_005274749.1:n.*226G>T
XM_005274689.3:c.3681G>T	XP_005274746.1:p.Lys1227Asn
XM_005274690.3:c.3594G>T	XP_005274747.1:p.Lys1198Asn
XM_005274691.3:c.3552G>T	XP_005274748.1:p.Lys1184Asn
XM_005274692.3:c.*226G>T	XP_005274749.1:n.*226G>T
XM_024452386.1:c.*226G>T	XP_024308154.1:n.*226G>T
XR_001755693.2:n.9304G>T
NM_001001344.3:c.3594G>T MANE Select	NP_001001344.1:p.Lys1198Asn
NM_001388360.1:c.*226G>T	NP_001375289.1:n.*226G>T
NM_001388361.1:c.3594G>T	NP_001375290.1:p.Lys1198Asn
NM_021949.4:c.*226G>T	NP_068768.2:n.*226G>T