Canonical Allele Identifier: CA406038554

Gene: ATP1A3

Linked Data

• gnomAD v4: 19-41970189-C-G
• MyVariant Identifiers: chr19:g.42474341C>G (hg19) ; chr19:g.41970189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970189C>G , CM000681.2:g.41970189C>G	GRCh38
NC_000019.9:g.42474341C>G , CM000681.1:g.42474341C>G	GRCh37
NC_000019.8:g.47166181C>G	NCBI36
NG_008015.1:g.29042G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2577G>C	ENSP00000444688.1:p.Gln859His
ENST00000644613.1:c.2538G>C	ENSP00000494711.1:p.Gln846His
ENST00000648268.1:c.2538G>C MANE Select	ENSP00000498113.1:p.Gln846His
ENST00000302102.9:c.2538G>C	ENSP00000302397.5:p.Gln846His
ENST00000441343.5:c.2538G>C	ENSP00000411503.1:p.Gln846His
ENST00000543770.5:c.2571G>C	ENSP00000437577.1:p.Gln857His
ENST00000545399.5:c.2577G>C	ENSP00000444688.1:p.Gln859His
ENST00000602133.5:c.2448G>C	ENSP00000471581.1:p.Gln816His
NM_001256213.1:c.2571G>C	NP_001243142.1:p.Gln857His
NM_001256214.1:c.2577G>C	NP_001243143.1:p.Gln859His
NM_152296.4:c.2538G>C	NP_689509.1:p.Gln846His
XM_011526991.1:c.2448G>C	XP_011525293.1:p.Gln816His
NM_152296.5:c.2538G>C MANE Select	NP_689509.1:p.Gln846His
NM_001256214.2:c.2577G>C	NP_001243143.1:p.Gln859His
NM_001256213.2:c.2571G>C	NP_001243142.1:p.Gln857His