Canonical Allele Identifier: CA343256753

Gene: ATP1A2

Linked Data

• dbSNP Id: rs1553246149
• gnomAD v4: 1-160139981-G-A
• MyVariant Identifiers: chr1:g.160109771G>A (hg19) ; chr1:g.160139981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160139981G>A , CM000663.2:g.160139981G>A	GRCh38
NC_000001.10:g.160109771G>A , CM000663.1:g.160109771G>A	GRCh37
NC_000001.9:g.158376395G>A	NCBI36
NG_008014.1:g.29224G>A , LRG_6:g.29224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.3031G>A MANE Select	ENSP00000354490.3:p.Gly1011Ser
ENST00000361216.7:c.3031G>A	ENSP00000354490.3:p.Gly1011Ser
ENST00000392233.7:c.2998G>A	ENSP00000376066.3:p.Gly1000Ser
ENST00000447527.1:c.2112G>A
ENST00000459972.1:n.23G>A
ENST00000463989.1:n.367G>A
NM_000702.3:c.3031G>A	NP_000693.1:p.Gly1011Ser
NM_000702.4:c.3031G>A MANE Select	NP_000693.1:p.Gly1011Ser