Canonical Allele Identifier: CA1219569652
Community Standard Title: NM_000069.3(CACNA1S):c.5049-12C>G
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201041601G>C , CM000663.2:g.201041601G>C GRCh38
NC_000001.10:g.201010729G>C , CM000663.1:g.201010729G>C GRCh37
NC_000001.9:g.199277352G>C NCBI36
NG_009816.1:g.75966C>G
NG_009816.2:g.75966C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000069.3:c.5049-12C>G MANE Select NP_000060.2:n.5049-12C>G
ENST00000362061.4:c.5049-12C>G MANE Select ENSP00000355192.3:n.5049-12C>G
NM_000069.2:c.5049-12C>G NP_000060.2:n.5049-12C>G
ENST00000362061.3:c.5049-12C>G ENSP00000355192.3:n.5049-12C>G
ENST00000367338.7:c.4992-12C>G ENSP00000356307.3:n.4992-12C>G
ENST00000679417.1:c.*4212-12C>G ENSP00000506706.1:n.*4212-12C>G
ENST00000680059.1:c.*2567-12C>G ENSP00000504944.1:n.*2567-12C>G
ENST00000681078.1:c.*824-12C>G ENSP00000506645.1:n.*824-12C>G
ENST00000681190.1:c.*1231-12C>G ENSP00000506428.1:n.*1231-12C>G
ENST00000681874.1:c.4989-12C>G ENSP00000505162.1:n.4989-12C>G
XM_005245478.2:c.4992-12C>G XP_005245535.1:n.4992-12C>G
XM_005245478.3:c.4992-12C>G XP_005245535.1:n.4992-12C>G
XR_001738364.1:n.1652-254G>C
XR_001738365.1:n.1562-254G>C
XR_001738366.1:n.1355-254G>C
XR_001738367.1:n.1568-254G>C
XR_001738368.1:n.1464-254G>C
XR_001738369.1:n.1240-254G>C
XR_001738370.1:n.1192-254G>C
XR_001738371.1:n.586-254G>C
XR_001738372.1:n.1058-254G>C
XR_241170.3:n.1465-254G>C
XR_922405.1:n.2003-254G>C
XR_922405.3:n.2113-254G>C
XR_922406.1:n.2281-254G>C
XR_922407.1:n.2191-254G>C
XR_922407.3:n.2301-254G>C
XR_922408.1:n.1369-254G>C
XR_922408.2:n.1374-254G>C
XR_922409.1:n.1984-254G>C
XR_922410.1:n.1391-254G>C
XR_922410.2:n.1383-254G>C
XR_922411.1:n.1983-254G>C
XR_922412.1:n.2197-254G>C
XR_922413.1:n.2093-254G>C
XR_922414.1:n.1300-254G>C
XR_922414.2:n.1292-254G>C
XR_922415.1:n.1869-254G>C
XR_922416.1:n.1309-254G>C
XR_922416.2:n.1301-254G>C
XR_922417.1:n.1887-254G>C
XR_922417.3:n.1997-254G>C
XR_922418.1:n.1821-254G>C
XR_922419.1:n.1215-254G>C
XR_922420.1:n.1687-254G>C