Canonical Allele Identifier: CA2576797148

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41977871A>G , CM000681.2:g.41977871A>G	GRCh38
NC_000019.9:g.42482023A>G , CM000681.1:g.42482023A>G	GRCh37
NC_000019.8:g.47173863A>G	NCBI36
NG_008015.1:g.21360T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1982+65T>C	ENSP00000444688.1:n.1982+65T>C
ENST00000644613.1:c.1943+65T>C	ENSP00000494711.1:n.1943+65T>C
ENST00000648268.1:c.1943+65T>C MANE Select	ENSP00000498113.1:n.1943+65T>C
ENST00000302102.9:c.1943+65T>C	ENSP00000302397.5:n.1943+65T>C
ENST00000441343.5:c.1943+65T>C	ENSP00000411503.1:n.1943+65T>C
ENST00000543770.5:c.1976+65T>C	ENSP00000437577.1:n.1976+65T>C
ENST00000545399.5:c.1982+65T>C	ENSP00000444688.1:n.1982+65T>C
ENST00000602133.5:c.1853+65T>C	ENSP00000471581.1:n.1853+65T>C
NM_001256213.1:c.1976+65T>C	NP_001243142.1:n.1976+65T>C
NM_001256214.1:c.1982+65T>C	NP_001243143.1:n.1982+65T>C
NM_152296.4:c.1943+65T>C	NP_689509.1:n.1943+65T>C
XM_011526991.1:c.1853+65T>C	XP_011525293.1:n.1853+65T>C
NM_152296.5:c.1943+65T>C MANE Select	NP_689509.1:n.1943+65T>C
NM_001256214.2:c.1982+65T>C	NP_001243143.1:n.1982+65T>C
NM_001256213.2:c.1976+65T>C	NP_001243142.1:n.1976+65T>C