Canonical Allele Identifier: CA9467704

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2071233
• ClinVar RCV Id: RCV002949251
• dbSNP Id: rs572519896
• ExAC: 19:42486044 C / T
• gnomAD v2: 19-42486044-C-T
• gnomAD v3: 19-41981892-C-T
• gnomAD v4: 19-41981892-C-T
• MyVariant Identifiers: chr19:g.42486044C>T (hg19) ; chr19:g.41981892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41981892C>T , CM000681.2:g.41981892C>T	GRCh38
NC_000019.9:g.42486044C>T , CM000681.1:g.42486044C>T	GRCh37
NC_000019.8:g.47177884C>T	NCBI36
NG_008015.1:g.17339G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.1231+16G>A	ENSP00000444688.1:n.1231+16G>A
ENST00000644613.1:c.1192+16G>A	ENSP00000494711.1:n.1192+16G>A
ENST00000648268.1:c.1192+16G>A MANE Select	ENSP00000498113.1:n.1192+16G>A
ENST00000302102.9:c.1192+16G>A	ENSP00000302397.5:n.1192+16G>A
ENST00000441343.5:c.1192+16G>A	ENSP00000411503.1:n.1192+16G>A
ENST00000543770.5:c.1225+16G>A	ENSP00000437577.1:n.1225+16G>A
ENST00000545399.5:c.1231+16G>A	ENSP00000444688.1:n.1231+16G>A
ENST00000602133.5:c.1102+16G>A	ENSP00000471581.1:n.1102+16G>A
NM_001256213.1:c.1225+16G>A	NP_001243142.1:n.1225+16G>A
NM_001256214.1:c.1231+16G>A	NP_001243143.1:n.1231+16G>A
NM_152296.4:c.1192+16G>A	NP_689509.1:n.1192+16G>A
XM_011526991.1:c.1102+16G>A	XP_011525293.1:n.1102+16G>A
NM_152296.5:c.1192+16G>A MANE Select	NP_689509.1:n.1192+16G>A
NM_001256214.2:c.1231+16G>A	NP_001243143.1:n.1231+16G>A
NM_001256213.2:c.1225+16G>A	NP_001243142.1:n.1225+16G>A