Canonical Allele Identifier: CA406052914

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42489234C>A (hg19) ; chr19:g.41985082C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985082C>A , CM000681.2:g.41985082C>A	GRCh38
NC_000019.9:g.42489234C>A , CM000681.1:g.42489234C>A	GRCh37
NC_000019.8:g.47181074C>A	NCBI36
NG_008015.1:g.14149G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.868G>T	ENSP00000444688.1:p.Glu290Ter
ENST00000644613.1:c.829G>T	ENSP00000494711.1:p.Glu277Ter
ENST00000648268.1:c.829G>T MANE Select	ENSP00000498113.1:p.Glu277Ter
ENST00000302102.9:c.829G>T	ENSP00000302397.5:p.Glu277Ter
ENST00000441343.5:c.829G>T	ENSP00000411503.1:p.Glu277Ter
ENST00000473086.3:c.739G>T	ENSP00000469129.2:p.Glu247Ter
ENST00000485672.2:n.142G>T
ENST00000543770.5:c.862G>T	ENSP00000437577.1:p.Glu288Ter
ENST00000545399.5:c.868G>T	ENSP00000444688.1:p.Glu290Ter
ENST00000602133.5:c.739G>T	ENSP00000471581.1:p.Glu247Ter
NM_001256213.1:c.862G>T	NP_001243142.1:p.Glu288Ter
NM_001256214.1:c.868G>T	NP_001243143.1:p.Glu290Ter
NM_152296.4:c.829G>T	NP_689509.1:p.Glu277Ter
XM_011526991.1:c.739G>T	XP_011525293.1:p.Glu247Ter
NM_152296.5:c.829G>T MANE Select	NP_689509.1:p.Glu277Ter
NM_001256214.2:c.868G>T	NP_001243143.1:p.Glu290Ter
NM_001256213.2:c.862G>T	NP_001243142.1:p.Glu288Ter