Canonical Allele Identifier: CA406045415

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2692694
• ClinVar RCV Id: RCV003514658
• MyVariant Identifiers: chr19:g.42482314C>G (hg19) ; chr19:g.41978162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978162C>G , CM000681.2:g.41978162C>G	GRCh38
NC_000019.9:g.42482314C>G , CM000681.1:g.42482314C>G	GRCh37
NC_000019.8:g.47174154C>G	NCBI36
NG_008015.1:g.21069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1834G>C	ENSP00000444688.1:p.Ala612Pro
ENST00000644613.1:c.1795G>C	ENSP00000494711.1:p.Ala599Pro
ENST00000648268.1:c.1795G>C MANE Select	ENSP00000498113.1:p.Ala599Pro
ENST00000302102.9:c.1795G>C	ENSP00000302397.5:p.Ala599Pro
ENST00000441343.5:c.1795G>C	ENSP00000411503.1:p.Ala599Pro
ENST00000543770.5:c.1828G>C	ENSP00000437577.1:p.Ala610Pro
ENST00000545399.5:c.1834G>C	ENSP00000444688.1:p.Ala612Pro
ENST00000602133.5:c.1705G>C	ENSP00000471581.1:p.Ala569Pro
NM_001256213.1:c.1828G>C	NP_001243142.1:p.Ala610Pro
NM_001256214.1:c.1834G>C	NP_001243143.1:p.Ala612Pro
NM_152296.4:c.1795G>C	NP_689509.1:p.Ala599Pro
XM_011526991.1:c.1705G>C	XP_011525293.1:p.Ala569Pro
NM_152296.5:c.1795G>C MANE Select	NP_689509.1:p.Ala599Pro
NM_001256214.2:c.1834G>C	NP_001243143.1:p.Ala612Pro
NM_001256213.2:c.1828G>C	NP_001243142.1:p.Ala610Pro