Canonical Allele Identifier: CA507583194

Gene: ATP1A3

Linked Data

• dbSNP Id: rs1555859607
• gnomAD v2: 19-42474657-G-T
• gnomAD v3: 19-41970505-G-T
• gnomAD v4: 19-41970505-G-T
• MyVariant Identifiers: chr19:g.42474657G>T (hg19) ; chr19:g.41970505G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970505G>T , CM000681.2:g.41970505G>T	GRCh38
NC_000019.9:g.42474657G>T , CM000681.1:g.42474657G>T	GRCh37
NC_000019.8:g.47166497G>T	NCBI36
NG_008015.1:g.28726C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2340C>A	ENSP00000444688.1:p.Ala780=
ENST00000644613.1:c.2301C>A	ENSP00000494711.1:p.Ala767=
ENST00000648268.1:c.2301C>A MANE Select	ENSP00000498113.1:p.Ala767=
ENST00000302102.9:c.2301C>A	ENSP00000302397.5:p.Ala767=
ENST00000441343.5:c.2301C>A	ENSP00000411503.1:p.Ala767=
ENST00000543770.5:c.2334C>A	ENSP00000437577.1:p.Ala778=
ENST00000545399.5:c.2340C>A	ENSP00000444688.1:p.Ala780=
ENST00000602133.5:c.2211C>A	ENSP00000471581.1:p.Ala737=
NM_001256213.1:c.2334C>A	NP_001243142.1:p.Ala778=
NM_001256214.1:c.2340C>A	NP_001243143.1:p.Ala780=
NM_152296.4:c.2301C>A	NP_689509.1:p.Ala767=
XM_011526991.1:c.2211C>A	XP_011525293.1:p.Ala737=
NM_152296.5:c.2301C>A MANE Select	NP_689509.1:p.Ala767=
NM_001256214.2:c.2340C>A	NP_001243143.1:p.Ala780=
NM_001256213.2:c.2334C>A	NP_001243142.1:p.Ala778=