Canonical Allele Identifier: CA507591613

Gene: ATP1A3

Linked Data

• dbSNP Id: rs1555865016
• gnomAD v2: 19-42489501-C-T
• gnomAD v4: 19-41985349-C-T
• MyVariant Identifiers: chr19:g.42489501C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985349C>T , CM000681.2:g.41985349C>T	GRCh38
NC_000019.9:g.42489501C>T , CM000681.1:g.42489501C>T	GRCh37
NC_000019.8:g.47181341C>T	NCBI36
NG_008015.1:g.13882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.720G>A	ENSP00000444688.1:p.Leu240=
ENST00000644613.1:c.681G>A	ENSP00000494711.1:p.Leu227=
ENST00000645448.1:n.913G>A
ENST00000648268.1:c.681G>A MANE Select	ENSP00000498113.1:p.Leu227=
ENST00000302102.9:c.681G>A	ENSP00000302397.5:p.Leu227=
ENST00000441343.5:c.681G>A	ENSP00000411503.1:p.Leu227=
ENST00000473086.3:c.591G>A	ENSP00000469129.2:p.Leu197=
ENST00000543770.5:c.714G>A	ENSP00000437577.1:p.Leu238=
ENST00000545399.5:c.720G>A	ENSP00000444688.1:p.Leu240=
ENST00000602133.5:c.591G>A	ENSP00000471581.1:p.Leu197=
NM_001256213.1:c.714G>A	NP_001243142.1:p.Leu238=
NM_001256214.1:c.720G>A	NP_001243143.1:p.Leu240=
NM_152296.4:c.681G>A	NP_689509.1:p.Leu227=
XM_011526991.1:c.591G>A	XP_011525293.1:p.Leu197=
NM_152296.5:c.681G>A MANE Select	NP_689509.1:p.Leu227=
NM_001256214.2:c.720G>A	NP_001243143.1:p.Leu240=
NM_001256213.2:c.714G>A	NP_001243142.1:p.Leu238=