Canonical Allele Identifier: CA406053214

Gene: ATP1A3

Linked Data

• gnomAD v4: 19-41985148-T-A
• MyVariant Identifiers: chr19:g.42489300T>A (hg19) ; chr19:g.41985148T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985148T>A , CM000681.2:g.41985148T>A	GRCh38
NC_000019.9:g.42489300T>A , CM000681.1:g.42489300T>A	GRCh37
NC_000019.8:g.47181140T>A	NCBI36
NG_008015.1:g.14083A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.802A>T	ENSP00000444688.1:p.Thr268Ser
ENST00000644613.1:c.763A>T	ENSP00000494711.1:p.Thr255Ser
ENST00000648268.1:c.763A>T MANE Select	ENSP00000498113.1:p.Thr255Ser
ENST00000302102.9:c.763A>T	ENSP00000302397.5:p.Thr255Ser
ENST00000441343.5:c.763A>T	ENSP00000411503.1:p.Thr255Ser
ENST00000473086.3:c.673A>T	ENSP00000469129.2:p.Thr225Ser
ENST00000485672.2:n.76A>T
ENST00000543770.5:c.796A>T	ENSP00000437577.1:p.Thr266Ser
ENST00000545399.5:c.802A>T	ENSP00000444688.1:p.Thr268Ser
ENST00000602133.5:c.673A>T	ENSP00000471581.1:p.Thr225Ser
NM_001256213.1:c.796A>T	NP_001243142.1:p.Thr266Ser
NM_001256214.1:c.802A>T	NP_001243143.1:p.Thr268Ser
NM_152296.4:c.763A>T	NP_689509.1:p.Thr255Ser
XM_011526991.1:c.673A>T	XP_011525293.1:p.Thr225Ser
NM_152296.5:c.763A>T MANE Select	NP_689509.1:p.Thr255Ser
NM_001256214.2:c.802A>T	NP_001243143.1:p.Thr268Ser
NM_001256213.2:c.796A>T	NP_001243142.1:p.Thr266Ser