Canonical Allele Identifier: CA406052217

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 523558
• ClinVar RCV Id: RCV000626998 ; RCV002529802
• dbSNP Id: rs879255368
• MyVariant Identifiers: chr19:g.42489105C>G (hg19) ; chr19:g.41984953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984953C>G , CM000681.2:g.41984953C>G	GRCh38
NC_000019.9:g.42489105C>G , CM000681.1:g.42489105C>G	GRCh37
NC_000019.8:g.47180945C>G	NCBI36
NG_008015.1:g.14278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.997G>C	ENSP00000444688.1:p.Ala333Pro
ENST00000644613.1:c.958G>C	ENSP00000494711.1:p.Ala320Pro
ENST00000648268.1:c.958G>C MANE Select	ENSP00000498113.1:p.Ala320Pro
ENST00000302102.9:c.958G>C	ENSP00000302397.5:p.Ala320Pro
ENST00000441343.5:c.958G>C	ENSP00000411503.1:p.Ala320Pro
ENST00000485672.2:n.271G>C
ENST00000543770.5:c.991G>C	ENSP00000437577.1:p.Ala331Pro
ENST00000545399.5:c.997G>C	ENSP00000444688.1:p.Ala333Pro
ENST00000602133.5:c.868G>C	ENSP00000471581.1:p.Ala290Pro
NM_001256213.1:c.991G>C	NP_001243142.1:p.Ala331Pro
NM_001256214.1:c.997G>C	NP_001243143.1:p.Ala333Pro
NM_152296.4:c.958G>C	NP_689509.1:p.Ala320Pro
XM_011526991.1:c.868G>C	XP_011525293.1:p.Ala290Pro
NM_152296.5:c.958G>C MANE Select	NP_689509.1:p.Ala320Pro
NM_001256214.2:c.997G>C	NP_001243143.1:p.Ala333Pro
NM_001256213.2:c.991G>C	NP_001243142.1:p.Ala331Pro