Canonical Allele Identifier: CA406052951

Gene: ATP1A3

Linked Data

• dbSNP Id: rs868987618
• COSMIC: COSM3404283
• MyVariant Identifiers: chr19:g.42489240C>T (hg19) ; chr19:g.41985088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985088C>T , CM000681.2:g.41985088C>T	GRCh38
NC_000019.9:g.42489240C>T , CM000681.1:g.42489240C>T	GRCh37
NC_000019.8:g.47181080C>T	NCBI36
NG_008015.1:g.14143G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.862G>A	ENSP00000444688.1:p.Ala288Thr
ENST00000644613.1:c.823G>A	ENSP00000494711.1:p.Ala275Thr
ENST00000648268.1:c.823G>A MANE Select	ENSP00000498113.1:p.Ala275Thr
ENST00000302102.9:c.823G>A	ENSP00000302397.5:p.Ala275Thr
ENST00000441343.5:c.823G>A	ENSP00000411503.1:p.Ala275Thr
ENST00000473086.3:c.733G>A	ENSP00000469129.2:p.Ala245Thr
ENST00000485672.2:n.136G>A
ENST00000543770.5:c.856G>A	ENSP00000437577.1:p.Ala286Thr
ENST00000545399.5:c.862G>A	ENSP00000444688.1:p.Ala288Thr
ENST00000602133.5:c.733G>A	ENSP00000471581.1:p.Ala245Thr
NM_001256213.1:c.856G>A	NP_001243142.1:p.Ala286Thr
NM_001256214.1:c.862G>A	NP_001243143.1:p.Ala288Thr
NM_152296.4:c.823G>A	NP_689509.1:p.Ala275Thr
XM_011526991.1:c.733G>A	XP_011525293.1:p.Ala245Thr
NM_152296.5:c.823G>A MANE Select	NP_689509.1:p.Ala275Thr
NM_001256214.2:c.862G>A	NP_001243143.1:p.Ala288Thr
NM_001256213.2:c.856G>A	NP_001243142.1:p.Ala286Thr