Canonical Allele Identifier: CA996017988

Gene: ATP1A3

Linked Data

• dbSNP Id: rs1168002399
• gnomAD v3: 19-41970626-C-CTTTTTTT
• gnomAD v4: 19-41970626-C-CTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970643_41970649dup , CM000681.2:g.41970643_41970649dup	GRCh38
NC_000019.9:g.42474795_42474801dup , CM000681.1:g.42474795_42474801dup	GRCh37
NC_000019.8:g.47166635_47166641dup	NCBI36
NG_008015.1:g.28598_28604dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2303-91_2303-85dup	ENSP00000444688.1:n.2303-91_2303-85dup
ENST00000644613.1:c.2264-91_2264-85dup	ENSP00000494711.1:n.2264-91_2264-85dup
ENST00000648268.1:c.2264-91_2264-85dup MANE Select	ENSP00000498113.1:n.2264-91_2264-85dup
ENST00000302102.9:c.2264-91_2264-85dup	ENSP00000302397.5:n.2264-91_2264-85dup
ENST00000441343.5:c.2264-91_2264-85dup	ENSP00000411503.1:n.2264-91_2264-85dup
ENST00000543770.5:c.2297-91_2297-85dup	ENSP00000437577.1:n.2297-91_2297-85dup
ENST00000545399.5:c.2303-91_2303-85dup	ENSP00000444688.1:n.2303-91_2303-85dup
ENST00000602133.5:c.2174-91_2174-85dup	ENSP00000471581.1:n.2174-91_2174-85dup
NM_001256213.1:c.2297-91_2297-85dup	NP_001243142.1:n.2297-91_2297-85dup
NM_001256214.1:c.2303-91_2303-85dup	NP_001243143.1:n.2303-91_2303-85dup
NM_152296.4:c.2264-91_2264-85dup	NP_689509.1:n.2264-91_2264-85dup
XM_011526991.1:c.2174-91_2174-85dup	XP_011525293.1:n.2174-91_2174-85dup
NM_152296.5:c.2264-91_2264-85dup MANE Select	NP_689509.1:n.2264-91_2264-85dup
NM_001256214.2:c.2303-91_2303-85dup	NP_001243143.1:n.2303-91_2303-85dup
NM_001256213.2:c.2297-91_2297-85dup	NP_001243142.1:n.2297-91_2297-85dup