Canonical Allele Identifier: CA7435928

Gene: ATP10A

Linked Data

• ClinVar Variation Id: 3059660
• ClinVar RCV Id: RCV003974631
• dbSNP Id: rs3816800
• ExAC: 15:25925094 C / G
• gnomAD v2: 15-25925094-C-G
• gnomAD v3: 15-25679947-C-G
• gnomAD v4: 15-25679947-C-G
• MyVariant Identifiers: chr15:g.25925094C>G (hg19) ; chr15:g.25679947C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.25679947C>G , CM000677.2:g.25679947C>G	GRCh38
NC_000015.9:g.25925094C>G , CM000677.1:g.25925094C>G	GRCh37
NC_000015.8:g.23476187C>G	NCBI36
NG_009282.1:g.188256G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555815.7:c.3894G>C MANE Select	ENSP00000450480.2:p.Arg1298Ser
ENST00000356865.11:c.3894G>C	ENSP00000349325.6:p.Arg1298Ser
ENST00000555450.2:n.1686G>C
ENST00000555815.6:c.3894G>C	ENSP00000450480.2:p.Arg1298Ser
ENST00000673680.1:n.4556G>C
ENST00000673805.1:n.3239G>C
ENST00000674021.1:n.2221G>C
ENST00000356865.10:c.3894G>C	ENSP00000349325.6:p.Arg1298Ser
ENST00000555815.5:c.*2108G>C	ENSP00000450480.1:n.*2108G>C
NM_024490.3:c.3894G>C	NP_077816.1:p.Arg1298Ser
XM_005268261.3:c.3894G>C	XP_005268318.1:p.Arg1298Ser
XM_011521826.1:c.3894G>C	XP_011520128.1:p.Arg1298Ser
XM_011521827.1:c.3894G>C	XP_011520129.1:p.Arg1298Ser
XM_011521828.1:c.3894G>C	XP_011520130.1:p.Arg1298Ser
XM_011521829.1:c.2979G>C	XP_011520131.1:p.Arg993Ser
XM_011521830.1:c.2556G>C	XP_011520132.1:p.Arg852Ser
XM_005268261.4:c.3894G>C	XP_005268318.1:p.Arg1298Ser
XM_011521826.2:c.3894G>C	XP_011520128.1:p.Arg1298Ser
XM_011521828.2:c.3894G>C	XP_011520130.1:p.Arg1298Ser
XM_011521829.2:c.2979G>C	XP_011520131.1:p.Arg993Ser
XM_011521830.2:c.2718G>C	XP_011520132.2:p.Arg906Ser
XM_017022436.1:c.3453G>C	XP_016877925.1:p.Arg1151Ser
XM_017022437.1:c.2979G>C	XP_016877926.1:p.Arg993Ser
NM_024490.4:c.3894G>C MANE Select	NP_077816.1:p.Arg1298Ser