Canonical Allele Identifier: CA9467750

Gene: ATP1A3

Linked Data

• dbSNP Id: rs781917112
• ExAC: 19:42489052 C / CTGT
• gnomAD v2: 19-42489052-C-CTGT
• gnomAD v4: 19-41984900-C-CTGT
• MyVariant Identifiers: chr19:g.42489052_42489053insTGT (hg19) ; chr19:g.41984900_41984901insTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984900_41984901insTGT , CM000681.2:g.41984900_41984901insTGT	GRCh38
NC_000019.9:g.42489052_42489053insTGT , CM000681.1:g.42489052_42489053insTGT	GRCh37
NC_000019.8:g.47180892_47180893insTGT	NCBI36
NG_008015.1:g.14330_14331insACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.1032+17_1032+18insACA	ENSP00000444688.1:n.1032+17_1032+18insACA
ENST00000644613.1:c.993+17_993+18insACA	ENSP00000494711.1:n.993+17_993+18insACA
ENST00000648268.1:c.993+17_993+18insACA MANE Select	ENSP00000498113.1:n.993+17_993+18insACA
ENST00000302102.9:c.993+17_993+18insACA	ENSP00000302397.5:n.993+17_993+18insACA
ENST00000441343.5:c.993+17_993+18insACA	ENSP00000411503.1:n.993+17_993+18insACA
ENST00000485672.2:n.323_324insACA
ENST00000543770.5:c.1026+17_1026+18insACA	ENSP00000437577.1:n.1026+17_1026+18insACA
ENST00000545399.5:c.1032+17_1032+18insACA	ENSP00000444688.1:n.1032+17_1032+18insACA
ENST00000602133.5:c.903+17_903+18insACA	ENSP00000471581.1:n.903+17_903+18insACA
NM_001256213.1:c.1026+17_1026+18insACA	NP_001243142.1:n.1026+17_1026+18insACA
NM_001256214.1:c.1032+17_1032+18insACA	NP_001243143.1:n.1032+17_1032+18insACA
NM_152296.4:c.993+17_993+18insACA	NP_689509.1:n.993+17_993+18insACA
XM_011526991.1:c.903+17_903+18insACA	XP_011525293.1:n.903+17_903+18insACA
NM_152296.5:c.993+17_993+18insACA MANE Select	NP_689509.1:n.993+17_993+18insACA
NM_001256214.2:c.1032+17_1032+18insACA	NP_001243143.1:n.1032+17_1032+18insACA
NM_001256213.2:c.1026+17_1026+18insACA	NP_001243142.1:n.1026+17_1026+18insACA