Canonical Allele Identifier: CA10652495

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 329433
• ClinVar RCV Id: RCV000295277 ; RCV000389712
• dbSNP Id: rs886054476
• gnomAD v4: 19-41988554-T-C
• MyVariant Identifiers: chr19:g.42492706T>C (hg19) ; chr19:g.41988554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41988554T>C , CM000681.2:g.41988554T>C	GRCh38
NC_000019.9:g.42492706T>C , CM000681.1:g.42492706T>C	GRCh37
NC_000019.8:g.47184546T>C	NCBI36
NG_008015.1:g.10677A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.54A>G	ENSP00000444688.1:p.Lys18=
ENST00000636197.1:c.-76A>G	ENSP00000489877.1:n.-76A>G
ENST00000636258.1:n.36A>G
ENST00000636282.1:n.37A>G
ENST00000637406.1:n.54A>G
ENST00000644613.1:c.15A>G	ENSP00000494711.1:p.Lys5=
ENST00000648268.1:c.15A>G MANE Select	ENSP00000498113.1:p.Lys5=
ENST00000302102.9:c.15A>G	ENSP00000302397.5:p.Lys5=
ENST00000441343.5:c.15A>G	ENSP00000411503.1:p.Lys5=
ENST00000465007.1:n.4A>G
ENST00000468774.3:n.324A>G
ENST00000473086.3:c.-76A>G	ENSP00000469129.2:n.-76A>G
ENST00000543770.5:c.48A>G	ENSP00000437577.1:p.Lys16=
ENST00000545399.5:c.54A>G	ENSP00000444688.1:p.Lys18=
ENST00000602133.5:c.-76A>G	ENSP00000471581.1:n.-76A>G
NM_001256213.1:c.48A>G	NP_001243142.1:p.Lys16=
NM_001256214.1:c.54A>G	NP_001243143.1:p.Lys18=
NM_152296.4:c.15A>G	NP_689509.1:p.Lys5=
XM_011526991.1:c.-76A>G	XP_011525293.1:n.-76A>G
NM_152296.5:c.15A>G MANE Select	NP_689509.1:p.Lys5=
NM_001256214.2:c.54A>G	NP_001243143.1:p.Lys18=
NM_001256213.2:c.48A>G	NP_001243142.1:p.Lys16=