Canonical Allele Identifier: CA9467399

Gene: ATP1A3

Linked Data

• dbSNP Id: rs201037662
• ExAC: 19:42474506 C / A
• gnomAD v2: 19-42474506-C-A
• gnomAD v3: 19-41970354-C-A
• gnomAD v4: 19-41970354-C-A
• MyVariant Identifiers: chr19:g.42474506C>A (hg19) ; chr19:g.41970354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970354C>A , CM000681.2:g.41970354C>A	GRCh38
NC_000019.9:g.42474506C>A , CM000681.1:g.42474506C>A	GRCh37
NC_000019.8:g.47166346C>A	NCBI36
NG_008015.1:g.28877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2457+34G>T	ENSP00000444688.1:n.2457+34G>T
ENST00000644613.1:c.2418+34G>T	ENSP00000494711.1:n.2418+34G>T
ENST00000648268.1:c.2418+34G>T MANE Select	ENSP00000498113.1:n.2418+34G>T
ENST00000302102.9:c.2418+34G>T	ENSP00000302397.5:n.2418+34G>T
ENST00000441343.5:c.2418+34G>T	ENSP00000411503.1:n.2418+34G>T
ENST00000543770.5:c.2451+34G>T	ENSP00000437577.1:n.2451+34G>T
ENST00000545399.5:c.2457+34G>T	ENSP00000444688.1:n.2457+34G>T
ENST00000602133.5:c.2328+34G>T	ENSP00000471581.1:n.2328+34G>T
NM_001256213.1:c.2451+34G>T	NP_001243142.1:n.2451+34G>T
NM_001256214.1:c.2457+34G>T	NP_001243143.1:n.2457+34G>T
NM_152296.4:c.2418+34G>T	NP_689509.1:n.2418+34G>T
XM_011526991.1:c.2328+34G>T	XP_011525293.1:n.2328+34G>T
NM_152296.5:c.2418+34G>T MANE Select	NP_689509.1:n.2418+34G>T
NM_001256214.2:c.2457+34G>T	NP_001243143.1:n.2457+34G>T
NM_001256213.2:c.2451+34G>T	NP_001243142.1:n.2451+34G>T