Canonical Allele Identifier: CA406034927

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41967248C>T , CM000681.2:g.41967248C>T	GRCh38
NC_000019.9:g.42471400C>T , CM000681.1:g.42471400C>T	GRCh37
NC_000019.8:g.47163240C>T	NCBI36
NG_008015.1:g.31983G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.3013+1G>A MANE Select	NP_689509.1:n.3013+1G>A
ENST00000648268.1:c.3013+1G>A MANE Select	ENSP00000498113.1:n.3013+1G>A
NM_001256213.1:c.3046+1G>A	NP_001243142.1:n.3046+1G>A
NM_001256213.2:c.3046+1G>A	NP_001243142.1:n.3046+1G>A
NM_001256214.1:c.3052+1G>A	NP_001243143.1:n.3052+1G>A
NM_001256214.2:c.3052+1G>A	NP_001243143.1:n.3052+1G>A
NM_152296.4:c.3013+1G>A	NP_689509.1:n.3013+1G>A
ENST00000302102.9:c.3013+1G>A	ENSP00000302397.5:n.3013+1G>A
ENST00000441343.5:c.3014G>A	ENSP00000411503.1:p.Gly1005Asp
ENST00000543770.5:c.3046+1G>A	ENSP00000437577.1:n.3046+1G>A
ENST00000545399.5:c.3052+1G>A	ENSP00000444688.1:n.3052+1G>A
ENST00000545399.6:c.3052+1G>A	ENSP00000444688.1:n.3052+1G>A
ENST00000602133.5:c.2923+1G>A	ENSP00000471581.1:n.2923+1G>A
ENST00000644613.1:c.3013+1G>A	ENSP00000494711.1:n.3013+1G>A
XM_011526991.1:c.2923+1G>A	XP_011525293.1:n.2923+1G>A