Canonical Allele Identifier: CA915952984
Community Standard Title: NM_152296.5(ATP1A3):c.94-5C>T
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41988382G>A , CM000681.2:g.41988382G>A GRCh38
NC_000019.9:g.42492534G>A , CM000681.1:g.42492534G>A GRCh37
NC_000019.8:g.47184374G>A NCBI36
NG_008015.1:g.10849C>T

Transcript Alleles

HGVS Amino-acid Change
NM_152296.5:c.94-5C>T MANE Select NP_689509.1:n.94-5C>T
ENST00000648268.1:c.94-5C>T MANE Select ENSP00000498113.1:n.94-5C>T
NM_001256213.1:c.127-5C>T NP_001243142.1:n.127-5C>T
NM_001256213.2:c.127-5C>T NP_001243142.1:n.127-5C>T
NM_001256214.1:c.133-5C>T NP_001243143.1:n.133-5C>T
NM_001256214.2:c.133-5C>T NP_001243143.1:n.133-5C>T
NM_152296.4:c.94-5C>T NP_689509.1:n.94-5C>T
ENST00000302102.9:c.94-5C>T ENSP00000302397.5:n.94-5C>T
ENST00000441343.5:c.94-5C>T ENSP00000411503.1:n.94-5C>T
ENST00000465007.1:n.83-5C>T
ENST00000468774.3:n.403-5C>T
ENST00000473086.3:c.4-5C>T ENSP00000469129.2:n.4-5C>T
ENST00000543770.5:c.127-5C>T ENSP00000437577.1:n.127-5C>T
ENST00000545399.5:c.133-5C>T ENSP00000444688.1:n.133-5C>T
ENST00000545399.6:c.133-5C>T ENSP00000444688.1:n.133-5C>T
ENST00000602133.5:c.4-5C>T ENSP00000471581.1:n.4-5C>T
ENST00000644613.1:c.94-5C>T ENSP00000494711.1:n.94-5C>T
XM_011526991.1:c.4-5C>T XP_011525293.1:n.4-5C>T