Canonical Allele Identifier: CA406046131

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42482463T>G (hg19) ; chr19:g.41978311T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978311T>G , CM000681.2:g.41978311T>G	GRCh38
NC_000019.9:g.42482463T>G , CM000681.1:g.42482463T>G	GRCh37
NC_000019.8:g.47174303T>G	NCBI36
NG_008015.1:g.20920A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1685A>C	ENSP00000444688.1:p.Tyr562Ser
ENST00000644613.1:c.1646A>C	ENSP00000494711.1:p.Tyr549Ser
ENST00000648268.1:c.1646A>C MANE Select	ENSP00000498113.1:p.Tyr549Ser
ENST00000302102.9:c.1646A>C	ENSP00000302397.5:p.Tyr549Ser
ENST00000441343.5:c.1646A>C	ENSP00000411503.1:p.Tyr549Ser
ENST00000543770.5:c.1679A>C	ENSP00000437577.1:p.Tyr560Ser
ENST00000545399.5:c.1685A>C	ENSP00000444688.1:p.Tyr562Ser
ENST00000602133.5:c.1556A>C	ENSP00000471581.1:p.Tyr519Ser
NM_001256213.1:c.1679A>C	NP_001243142.1:p.Tyr560Ser
NM_001256214.1:c.1685A>C	NP_001243143.1:p.Tyr562Ser
NM_152296.4:c.1646A>C	NP_689509.1:p.Tyr549Ser
XM_011526991.1:c.1556A>C	XP_011525293.1:p.Tyr519Ser
NM_152296.5:c.1646A>C MANE Select	NP_689509.1:p.Tyr549Ser
NM_001256214.2:c.1685A>C	NP_001243143.1:p.Tyr562Ser
NM_001256213.2:c.1679A>C	NP_001243142.1:p.Tyr560Ser