Canonical Allele Identifier: CA9467427

Gene: ATP1A3

Linked Data

• dbSNP Id: rs782763414
• ExAC: 19:42474735 G / GA
• gnomAD v2: 19-42474735-G-GA
• gnomAD v4: 19-41970583-G-GA
• MyVariant Identifiers: chr19:g.42474735_42474736insA (hg19) ; chr19:g.41970583_41970584insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970584dup , CM000681.2:g.41970584dup	GRCh38
NC_000019.9:g.42474736dup , CM000681.1:g.42474736dup	GRCh37
NC_000019.8:g.47166576dup	NCBI36
NG_008015.1:g.28647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2303-42dup	ENSP00000444688.1:n.2303-42dup
ENST00000644613.1:c.2264-42dup	ENSP00000494711.1:n.2264-42dup
ENST00000648268.1:c.2264-42dup MANE Select	ENSP00000498113.1:n.2264-42dup
ENST00000302102.9:c.2264-42dup	ENSP00000302397.5:n.2264-42dup
ENST00000441343.5:c.2264-42dup	ENSP00000411503.1:n.2264-42dup
ENST00000543770.5:c.2297-42dup	ENSP00000437577.1:n.2297-42dup
ENST00000545399.5:c.2303-42dup	ENSP00000444688.1:n.2303-42dup
ENST00000602133.5:c.2174-42dup	ENSP00000471581.1:n.2174-42dup
NM_001256213.1:c.2297-42dup	NP_001243142.1:n.2297-42dup
NM_001256214.1:c.2303-42dup	NP_001243143.1:n.2303-42dup
NM_152296.4:c.2264-42dup	NP_689509.1:n.2264-42dup
XM_011526991.1:c.2174-42dup	XP_011525293.1:n.2174-42dup
NM_152296.5:c.2264-42dup MANE Select	NP_689509.1:n.2264-42dup
NM_001256214.2:c.2303-42dup	NP_001243143.1:n.2303-42dup
NM_001256213.2:c.2297-42dup	NP_001243142.1:n.2297-42dup