Canonical Allele Identifier: CA406053315

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 948279
• ClinVar RCV Id: RCV001219501 ; RCV001773492
• dbSNP Id: rs2075276205
• MyVariant Identifiers: chr19:g.42489463A>G (hg19) ; chr19:g.41985311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985311A>G , CM000681.2:g.41985311A>G	GRCh38
NC_000019.9:g.42489463A>G , CM000681.1:g.42489463A>G	GRCh37
NC_000019.8:g.47181303A>G	NCBI36
NG_008015.1:g.13920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.758T>C	ENSP00000444688.1:p.Val253Ala
ENST00000644613.1:c.719T>C	ENSP00000494711.1:p.Val240Ala
ENST00000645448.1:n.951T>C
ENST00000648268.1:c.719T>C MANE Select	ENSP00000498113.1:p.Val240Ala
ENST00000302102.9:c.719T>C	ENSP00000302397.5:p.Val240Ala
ENST00000441343.5:c.719T>C	ENSP00000411503.1:p.Val240Ala
ENST00000473086.3:c.629T>C	ENSP00000469129.2:p.Val210Ala
ENST00000485672.2:n.32T>C
ENST00000543770.5:c.752T>C	ENSP00000437577.1:p.Val251Ala
ENST00000545399.5:c.758T>C	ENSP00000444688.1:p.Val253Ala
ENST00000602133.5:c.629T>C	ENSP00000471581.1:p.Val210Ala
NM_001256213.1:c.752T>C	NP_001243142.1:p.Val251Ala
NM_001256214.1:c.758T>C	NP_001243143.1:p.Val253Ala
NM_152296.4:c.719T>C	NP_689509.1:p.Val240Ala
XM_011526991.1:c.629T>C	XP_011525293.1:p.Val210Ala
NM_152296.5:c.719T>C MANE Select	NP_689509.1:p.Val240Ala
NM_001256214.2:c.758T>C	NP_001243143.1:p.Val253Ala
NM_001256213.2:c.752T>C	NP_001243142.1:p.Val251Ala