Canonical Allele Identifier: CA406053036

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1358308
• ClinVar RCV Id: RCV001894190
• dbSNP Id: rs1555864875
• gnomAD v2: 19-42489254-C-T
• MyVariant Identifiers: chr19:g.42489254C>T (hg19) ; chr19:g.41985102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985102C>T , CM000681.2:g.41985102C>T	GRCh38
NC_000019.9:g.42489254C>T , CM000681.1:g.42489254C>T	GRCh37
NC_000019.8:g.47181094C>T	NCBI36
NG_008015.1:g.14129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.848G>A	ENSP00000444688.1:p.Gly283Asp
ENST00000644613.1:c.809G>A	ENSP00000494711.1:p.Gly270Asp
ENST00000648268.1:c.809G>A MANE Select	ENSP00000498113.1:p.Gly270Asp
ENST00000302102.9:c.809G>A	ENSP00000302397.5:p.Gly270Asp
ENST00000441343.5:c.809G>A	ENSP00000411503.1:p.Gly270Asp
ENST00000473086.3:c.719G>A	ENSP00000469129.2:p.Gly240Asp
ENST00000485672.2:n.122G>A
ENST00000543770.5:c.842G>A	ENSP00000437577.1:p.Gly281Asp
ENST00000545399.5:c.848G>A	ENSP00000444688.1:p.Gly283Asp
ENST00000602133.5:c.719G>A	ENSP00000471581.1:p.Gly240Asp
NM_001256213.1:c.842G>A	NP_001243142.1:p.Gly281Asp
NM_001256214.1:c.848G>A	NP_001243143.1:p.Gly283Asp
NM_152296.4:c.809G>A	NP_689509.1:p.Gly270Asp
XM_011526991.1:c.719G>A	XP_011525293.1:p.Gly240Asp
NM_152296.5:c.809G>A MANE Select	NP_689509.1:p.Gly270Asp
NM_001256214.2:c.848G>A	NP_001243143.1:p.Gly283Asp
NM_001256213.2:c.842G>A	NP_001243142.1:p.Gly281Asp