Canonical Allele Identifier: CA406053277
Gene: ATP1A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41985180G>C , CM000681.2:g.41985180G>C GRCh38
NC_000019.9:g.42489332G>C , CM000681.1:g.42489332G>C GRCh37
NC_000019.8:g.47181172G>C NCBI36
NG_008015.1:g.14051C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.770C>G ENSP00000444688.1:p.Ala257Gly
ENST00000644613.1:c.731C>G ENSP00000494711.1:p.Ala244Gly
ENST00000648268.1:c.731C>G MANE Select ENSP00000498113.1:p.Ala244Gly
ENST00000302102.9:c.731C>G ENSP00000302397.5:p.Ala244Gly
ENST00000441343.5:c.731C>G ENSP00000411503.1:p.Ala244Gly
ENST00000473086.3:c.641C>G ENSP00000469129.2:p.Ala214Gly
ENST00000485672.2:n.44C>G
ENST00000543770.5:c.764C>G ENSP00000437577.1:p.Ala255Gly
ENST00000545399.5:c.770C>G ENSP00000444688.1:p.Ala257Gly
ENST00000602133.5:c.641C>G ENSP00000471581.1:p.Ala214Gly
NM_001256213.1:c.764C>G NP_001243142.1:p.Ala255Gly
NM_001256214.1:c.770C>G NP_001243143.1:p.Ala257Gly
NM_152296.4:c.731C>G NP_689509.1:p.Ala244Gly
XM_011526991.1:c.641C>G XP_011525293.1:p.Ala214Gly
NM_152296.5:c.731C>G MANE Select NP_689509.1:p.Ala244Gly
NM_001256214.2:c.770C>G NP_001243143.1:p.Ala257Gly
NM_001256213.2:c.764C>G NP_001243142.1:p.Ala255Gly