Canonical Allele Identifier: CA633185059

Gene: ATP1A3

Linked Data

• dbSNP Id: rs1555862068
• gnomAD v2: 19-42482290-C-T
• gnomAD v4: 19-41978138-C-T
• MyVariant Identifiers: chr19:g.42482290C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978138C>T , CM000681.2:g.41978138C>T	GRCh38
NC_000019.9:g.42482290C>T , CM000681.1:g.42482290C>T	GRCh37
NC_000019.8:g.47174130C>T	NCBI36
NG_008015.1:g.21093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1845+13G>A	ENSP00000444688.1:n.1845+13G>A
ENST00000644613.1:c.1806+13G>A	ENSP00000494711.1:n.1806+13G>A
ENST00000648268.1:c.1806+13G>A MANE Select	ENSP00000498113.1:n.1806+13G>A
ENST00000302102.9:c.1806+13G>A	ENSP00000302397.5:n.1806+13G>A
ENST00000441343.5:c.1806+13G>A	ENSP00000411503.1:n.1806+13G>A
ENST00000543770.5:c.1839+13G>A	ENSP00000437577.1:n.1839+13G>A
ENST00000545399.5:c.1845+13G>A	ENSP00000444688.1:n.1845+13G>A
ENST00000602133.5:c.1716+13G>A	ENSP00000471581.1:n.1716+13G>A
NM_001256213.1:c.1839+13G>A	NP_001243142.1:n.1839+13G>A
NM_001256214.1:c.1845+13G>A	NP_001243143.1:n.1845+13G>A
NM_152296.4:c.1806+13G>A	NP_689509.1:n.1806+13G>A
XM_011526991.1:c.1716+13G>A	XP_011525293.1:n.1716+13G>A
NM_152296.5:c.1806+13G>A MANE Select	NP_689509.1:n.1806+13G>A
NM_001256214.2:c.1845+13G>A	NP_001243143.1:n.1845+13G>A
NM_001256213.2:c.1839+13G>A	NP_001243142.1:n.1839+13G>A