Canonical Allele Identifier: CA507695153

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1968206
• ClinVar RCV Id: RCV002755119
• dbSNP Id: rs781940646
• gnomAD v2: 19-42489244-G-A
• gnomAD v4: 19-41985092-G-A
• MyVariant Identifiers: chr19:g.42489244G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985092G>A , CM000681.2:g.41985092G>A	GRCh38
NC_000019.9:g.42489244G>A , CM000681.1:g.42489244G>A	GRCh37
NC_000019.8:g.47181084G>A	NCBI36
NG_008015.1:g.14139C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.858C>T	ENSP00000444688.1:p.Pro286=
ENST00000644613.1:c.819C>T	ENSP00000494711.1:p.Pro273=
ENST00000648268.1:c.819C>T MANE Select	ENSP00000498113.1:p.Pro273=
ENST00000302102.9:c.819C>T	ENSP00000302397.5:p.Pro273=
ENST00000441343.5:c.819C>T	ENSP00000411503.1:p.Pro273=
ENST00000473086.3:c.729C>T	ENSP00000469129.2:p.Pro243=
ENST00000485672.2:n.132C>T
ENST00000543770.5:c.852C>T	ENSP00000437577.1:p.Pro284=
ENST00000545399.5:c.858C>T	ENSP00000444688.1:p.Pro286=
ENST00000602133.5:c.729C>T	ENSP00000471581.1:p.Pro243=
NM_001256213.1:c.852C>T	NP_001243142.1:p.Pro284=
NM_001256214.1:c.858C>T	NP_001243143.1:p.Pro286=
NM_152296.4:c.819C>T	NP_689509.1:p.Pro273=
XM_011526991.1:c.729C>T	XP_011525293.1:p.Pro243=
NM_152296.5:c.819C>T MANE Select	NP_689509.1:p.Pro273=
NM_001256214.2:c.858C>T	NP_001243143.1:p.Pro286=
NM_001256213.2:c.852C>T	NP_001243142.1:p.Pro284=