Canonical Allele Identifier: CA614962663
Gene: SLC8A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.70050466T>C , CM000676.2:g.70050466T>C GRCh38
NC_000014.8:g.70517183T>C , CM000676.1:g.70517183T>C GRCh37
NC_000014.7:g.69586936T>C NCBI36
NG_047080.1:g.178147A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000528359.6:c.2125+542A>G ENSP00000433531.1:n.2125+542A>G
ENST00000705391.1:c.2113+542A>G ENSP00000516120.1:n.2113+542A>G
ENST00000356921.7:c.2113+542A>G MANE Select ENSP00000349392.3:n.2113+542A>G
ENST00000216568.11:c.244+542A>G ENSP00000216568.7:n.244+542A>G
ENST00000356921.6:c.2113+542A>G ENSP00000349392.2:n.2113+542A>G
ENST00000357887.7:c.2125+542A>G ENSP00000350560.3:n.2125+542A>G
ENST00000381269.6:c.2131+542A>G ENSP00000370669.2:n.2131+542A>G
ENST00000394330.6:c.202+542A>G ENSP00000377863.2:n.202+542A>G
ENST00000494208.5:c.*146+542A>G ENSP00000436332.1:n.*146+542A>G
ENST00000528359.5:c.2125+542A>G ENSP00000433531.1:n.2125+542A>G
ENST00000533541.1:c.202+542A>G ENSP00000437103.1:n.202+542A>G
ENST00000534137.5:c.2122+542A>G ENSP00000436688.1:n.2122+542A>G
NM_001130417.2:c.244+542A>G NP_001123889.1:n.244+542A>G
NM_033262.4:c.2125+542A>G NP_150287.1:n.2125+542A>G
NM_058240.3:c.2122+542A>G NP_489479.1:n.2122+542A>G
NM_182932.2:c.2113+542A>G NP_891977.1:n.2113+542A>G
NM_182936.2:c.202+542A>G NP_891981.1:n.202+542A>G
NM_183002.2:c.2131+542A>G NP_892114.1:n.2131+542A>G
NR_104122.1:n.2763+542A>G
XM_005268017.1:c.2134+542A>G XP_005268074.1:n.2134+542A>G
XM_005268018.2:c.1603+542A>G XP_005268075.2:n.1603+542A>G
XM_006720240.2:c.262+542A>G XP_006720303.1:n.262+542A>G
XM_011537101.1:c.2134+542A>G XP_011535403.1:n.2134+542A>G
XM_011537102.1:c.2131+542A>G XP_011535404.1:n.2131+542A>G
XM_006720240.3:c.262+542A>G XP_006720303.1:n.262+542A>G
XM_017021606.1:c.2131+542A>G XP_016877095.1:n.2131+542A>G
XM_017021607.1:c.2131+542A>G XP_016877096.1:n.2131+542A>G
XM_017021608.1:c.2113+542A>G XP_016877097.1:n.2113+542A>G
XM_017021609.1:c.2113+542A>G XP_016877098.1:n.2113+542A>G
XM_017021611.1:c.283+542A>G XP_016877100.1:n.283+542A>G
NM_001130417.3:c.244+542A>G NP_001123889.1:n.244+542A>G
NM_058240.4:c.2122+542A>G NP_489479.1:n.2122+542A>G
NM_182932.3:c.2113+542A>G MANE Select NP_891977.1:n.2113+542A>G
NM_182936.3:c.202+542A>G NP_891981.1:n.202+542A>G
NM_183002.3:c.2131+542A>G NP_892114.1:n.2131+542A>G
NR_104122.2:n.2644+542A>G
NM_033262.5:c.2125+542A>G NP_150287.1:n.2125+542A>G