Canonical Allele Identifier: CA507583243

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2041345
• ClinVar RCV Id: RCV002891076
• dbSNP Id: rs2075092282
• gnomAD v4: 19-41970526-G-A
• MyVariant Identifiers: chr19:g.42474678G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970526G>A , CM000681.2:g.41970526G>A	GRCh38
NC_000019.9:g.42474678G>A , CM000681.1:g.42474678G>A	GRCh37
NC_000019.8:g.47166518G>A	NCBI36
NG_008015.1:g.28705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2319C>T	ENSP00000444688.1:p.Asp773=
ENST00000644613.1:c.2280C>T	ENSP00000494711.1:p.Asp760=
ENST00000648268.1:c.2280C>T MANE Select	ENSP00000498113.1:p.Asp760=
ENST00000302102.9:c.2280C>T	ENSP00000302397.5:p.Asp760=
ENST00000441343.5:c.2280C>T	ENSP00000411503.1:p.Asp760=
ENST00000543770.5:c.2313C>T	ENSP00000437577.1:p.Asp771=
ENST00000545399.5:c.2319C>T	ENSP00000444688.1:p.Asp773=
ENST00000602133.5:c.2190C>T	ENSP00000471581.1:p.Asp730=
NM_001256213.1:c.2313C>T	NP_001243142.1:p.Asp771=
NM_001256214.1:c.2319C>T	NP_001243143.1:p.Asp773=
NM_152296.4:c.2280C>T	NP_689509.1:p.Asp760=
XM_011526991.1:c.2190C>T	XP_011525293.1:p.Asp730=
NM_152296.5:c.2280C>T MANE Select	NP_689509.1:p.Asp760=
NM_001256214.2:c.2319C>T	NP_001243143.1:p.Asp773=
NM_001256213.2:c.2313C>T	NP_001243142.1:p.Asp771=