Canonical Allele Identifier: CA406053153

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42489278G>C (hg19) ; chr19:g.41985126G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985126G>C , CM000681.2:g.41985126G>C	GRCh38
NC_000019.9:g.42489278G>C , CM000681.1:g.42489278G>C	GRCh37
NC_000019.8:g.47181118G>C	NCBI36
NG_008015.1:g.14105C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.824C>G	ENSP00000444688.1:p.Thr275Ser
ENST00000644613.1:c.785C>G	ENSP00000494711.1:p.Thr262Ser
ENST00000648268.1:c.785C>G MANE Select	ENSP00000498113.1:p.Thr262Ser
ENST00000302102.9:c.785C>G	ENSP00000302397.5:p.Thr262Ser
ENST00000441343.5:c.785C>G	ENSP00000411503.1:p.Thr262Ser
ENST00000473086.3:c.695C>G	ENSP00000469129.2:p.Thr232Ser
ENST00000485672.2:n.98C>G
ENST00000543770.5:c.818C>G	ENSP00000437577.1:p.Thr273Ser
ENST00000545399.5:c.824C>G	ENSP00000444688.1:p.Thr275Ser
ENST00000602133.5:c.695C>G	ENSP00000471581.1:p.Thr232Ser
NM_001256213.1:c.818C>G	NP_001243142.1:p.Thr273Ser
NM_001256214.1:c.824C>G	NP_001243143.1:p.Thr275Ser
NM_152296.4:c.785C>G	NP_689509.1:p.Thr262Ser
XM_011526991.1:c.695C>G	XP_011525293.1:p.Thr232Ser
NM_152296.5:c.785C>G MANE Select	NP_689509.1:p.Thr262Ser
NM_001256214.2:c.824C>G	NP_001243143.1:p.Thr275Ser
NM_001256213.2:c.818C>G	NP_001243142.1:p.Thr273Ser