Canonical Allele Identifier: CA507695337

Gene: ATP1A3

Linked Data

• gnomAD v4: 19-41985313-A-G
• MyVariant Identifiers: chr19:g.42489465A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985313A>G , CM000681.2:g.41985313A>G	GRCh38
NC_000019.9:g.42489465A>G , CM000681.1:g.42489465A>G	GRCh37
NC_000019.8:g.47181305A>G	NCBI36
NG_008015.1:g.13918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.756T>C	ENSP00000444688.1:p.Cys252=
ENST00000644613.1:c.717T>C	ENSP00000494711.1:p.Cys239=
ENST00000645448.1:n.949T>C
ENST00000648268.1:c.717T>C MANE Select	ENSP00000498113.1:p.Cys239=
ENST00000302102.9:c.717T>C	ENSP00000302397.5:p.Cys239=
ENST00000441343.5:c.717T>C	ENSP00000411503.1:p.Cys239=
ENST00000473086.3:c.627T>C	ENSP00000469129.2:p.Cys209=
ENST00000485672.2:n.30T>C
ENST00000543770.5:c.750T>C	ENSP00000437577.1:p.Cys250=
ENST00000545399.5:c.756T>C	ENSP00000444688.1:p.Cys252=
ENST00000602133.5:c.627T>C	ENSP00000471581.1:p.Cys209=
NM_001256213.1:c.750T>C	NP_001243142.1:p.Cys250=
NM_001256214.1:c.756T>C	NP_001243143.1:p.Cys252=
NM_152296.4:c.717T>C	NP_689509.1:p.Cys239=
XM_011526991.1:c.627T>C	XP_011525293.1:p.Cys209=
NM_152296.5:c.717T>C MANE Select	NP_689509.1:p.Cys239=
NM_001256214.2:c.756T>C	NP_001243143.1:p.Cys252=
NM_001256213.2:c.750T>C	NP_001243142.1:p.Cys250=