Canonical Allele Identifier: CA406053999

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42489491T>C (hg19) ; chr19:g.41985339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985339T>C , CM000681.2:g.41985339T>C	GRCh38
NC_000019.9:g.42489491T>C , CM000681.1:g.42489491T>C	GRCh37
NC_000019.8:g.47181331T>C	NCBI36
NG_008015.1:g.13892A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.730A>G	ENSP00000444688.1:p.Asn244Asp
ENST00000644613.1:c.691A>G	ENSP00000494711.1:p.Asn231Asp
ENST00000645448.1:n.923A>G
ENST00000648268.1:c.691A>G MANE Select	ENSP00000498113.1:p.Asn231Asp
ENST00000302102.9:c.691A>G	ENSP00000302397.5:p.Asn231Asp
ENST00000441343.5:c.691A>G	ENSP00000411503.1:p.Asn231Asp
ENST00000473086.3:c.601A>G	ENSP00000469129.2:p.Asn201Asp
ENST00000485672.2:n.4A>G
ENST00000543770.5:c.724A>G	ENSP00000437577.1:p.Asn242Asp
ENST00000545399.5:c.730A>G	ENSP00000444688.1:p.Asn244Asp
ENST00000602133.5:c.601A>G	ENSP00000471581.1:p.Asn201Asp
NM_001256213.1:c.724A>G	NP_001243142.1:p.Asn242Asp
NM_001256214.1:c.730A>G	NP_001243143.1:p.Asn244Asp
NM_152296.4:c.691A>G	NP_689509.1:p.Asn231Asp
XM_011526991.1:c.601A>G	XP_011525293.1:p.Asn201Asp
NM_152296.5:c.691A>G MANE Select	NP_689509.1:p.Asn231Asp
NM_001256214.2:c.730A>G	NP_001243143.1:p.Asn244Asp
NM_001256213.2:c.724A>G	NP_001243142.1:p.Asn242Asp