Canonical Allele Identifier: CA10603656

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 280121
• ClinVar RCV Id: RCV000272828 ; RCV001197881 ; RCV001266079 ; RCV003236579
• dbSNP Id: rs886041396
• MyVariant Identifiers: chr19:g.42474634G>A (hg19) ; chr19:g.41970482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970482G>A , CM000681.2:g.41970482G>A	GRCh38
NC_000019.9:g.42474634G>A , CM000681.1:g.42474634G>A	GRCh37
NC_000019.8:g.47166474G>A	NCBI36
NG_008015.1:g.28749C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.2363C>T	ENSP00000444688.1:p.Pro788Leu
ENST00000644613.1:c.2324C>T	ENSP00000494711.1:p.Pro775Leu
ENST00000648268.1:c.2324C>T MANE Select	ENSP00000498113.1:p.Pro775Leu
ENST00000302102.9:c.2324C>T	ENSP00000302397.5:p.Pro775Leu
ENST00000441343.5:c.2324C>T	ENSP00000411503.1:p.Pro775Leu
ENST00000543770.5:c.2357C>T	ENSP00000437577.1:p.Pro786Leu
ENST00000545399.5:c.2363C>T	ENSP00000444688.1:p.Pro788Leu
ENST00000602133.5:c.2234C>T	ENSP00000471581.1:p.Pro745Leu
NM_001256213.1:c.2357C>T	NP_001243142.1:p.Pro786Leu
NM_001256214.1:c.2363C>T	NP_001243143.1:p.Pro788Leu
NM_152296.4:c.2324C>T	NP_689509.1:p.Pro775Leu
XM_011526991.1:c.2234C>T	XP_011525293.1:p.Pro745Leu
NM_152296.5:c.2324C>T MANE Select	NP_689509.1:p.Pro775Leu
NM_001256214.2:c.2363C>T	NP_001243143.1:p.Pro788Leu
NM_001256213.2:c.2357C>T	NP_001243142.1:p.Pro786Leu