Canonical Allele Identifier: CA2576797142

Gene: ATP1A3

Linked Data

• gnomAD v4: 19-41977851-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41977851G>C , CM000681.2:g.41977851G>C	GRCh38
NC_000019.9:g.42482003G>C , CM000681.1:g.42482003G>C	GRCh37
NC_000019.8:g.47173843G>C	NCBI36
NG_008015.1:g.21380C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.1982+85C>G	ENSP00000444688.1:n.1982+85C>G
ENST00000644613.1:c.1943+85C>G	ENSP00000494711.1:n.1943+85C>G
ENST00000648268.1:c.1943+85C>G MANE Select	ENSP00000498113.1:n.1943+85C>G
ENST00000302102.9:c.1943+85C>G	ENSP00000302397.5:n.1943+85C>G
ENST00000441343.5:c.1943+85C>G	ENSP00000411503.1:n.1943+85C>G
ENST00000543770.5:c.1976+85C>G	ENSP00000437577.1:n.1976+85C>G
ENST00000545399.5:c.1982+85C>G	ENSP00000444688.1:n.1982+85C>G
ENST00000602133.5:c.1853+85C>G	ENSP00000471581.1:n.1853+85C>G
NM_001256213.1:c.1976+85C>G	NP_001243142.1:n.1976+85C>G
NM_001256214.1:c.1982+85C>G	NP_001243143.1:n.1982+85C>G
NM_152296.4:c.1943+85C>G	NP_689509.1:n.1943+85C>G
XM_011526991.1:c.1853+85C>G	XP_011525293.1:n.1853+85C>G
NM_152296.5:c.1943+85C>G MANE Select	NP_689509.1:n.1943+85C>G
NM_001256214.2:c.1982+85C>G	NP_001243143.1:n.1982+85C>G
NM_001256213.2:c.1976+85C>G	NP_001243142.1:n.1976+85C>G