Canonical Allele Identifier: CA406044958

Gene: ATP1A3

Linked Data

• dbSNP Id: rs1555861981
• gnomAD v2: 19-42482131-T-C
• MyVariant Identifiers: chr19:g.42482131T>C (hg19) ; chr19:g.41977979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41977979T>C , CM000681.2:g.41977979T>C	GRCh38
NC_000019.9:g.42482131T>C , CM000681.1:g.42482131T>C	GRCh37
NC_000019.8:g.47173971T>C	NCBI36
NG_008015.1:g.21252A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1939A>G	ENSP00000444688.1:p.Ile647Val
ENST00000644613.1:c.1900A>G	ENSP00000494711.1:p.Ile634Val
ENST00000648268.1:c.1900A>G MANE Select	ENSP00000498113.1:p.Ile634Val
ENST00000302102.9:c.1900A>G	ENSP00000302397.5:p.Ile634Val
ENST00000441343.5:c.1900A>G	ENSP00000411503.1:p.Ile634Val
ENST00000543770.5:c.1933A>G	ENSP00000437577.1:p.Ile645Val
ENST00000545399.5:c.1939A>G	ENSP00000444688.1:p.Ile647Val
ENST00000602133.5:c.1810A>G	ENSP00000471581.1:p.Ile604Val
NM_001256213.1:c.1933A>G	NP_001243142.1:p.Ile645Val
NM_001256214.1:c.1939A>G	NP_001243143.1:p.Ile647Val
NM_152296.4:c.1900A>G	NP_689509.1:p.Ile634Val
XM_011526991.1:c.1810A>G	XP_011525293.1:p.Ile604Val
NM_152296.5:c.1900A>G MANE Select	NP_689509.1:p.Ile634Val
NM_001256214.2:c.1939A>G	NP_001243143.1:p.Ile647Val
NM_001256213.2:c.1933A>G	NP_001243142.1:p.Ile645Val