Canonical Allele Identifier: CA2277862082

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210302A= , CM000679.2:g.80210302A= GRCh38
NC_000017.10:g.78184101A= , CM000679.1:g.78184101A= GRCh37
NC_000017.9:g.75798696A= NCBI36
NG_008229.1:g.15099T=
NG_032778.1:g.45311A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+1044A= (CARD14)
ENST00000326317.11:c.*150T= (SGSH) MANE Select ENSP00000314606.6:n.*150T=
ENST00000326317.10:c.*150T= (SGSH) ENSP00000314606.6:n.*150T=
ENST00000572257.5:c.551+1769T= (SGSH)
ENST00000573150.5:c.*869T= (SGSH) ENSP00000459280.1:n.*869T=
ENST00000575282.5:n.4542T= (SGSH)
NM_000199.3:c.*150T= (SGSH) NP_000190.1:n.*150T=
XM_005257583.3:c.949+1769T= (SGSH) XP_005257640.1:n.949+1769T=
NM_000199.4:c.*150T= (SGSH) NP_000190.1:n.*150T=
NM_001352921.1:c.*746T= (SGSH) NP_001339850.1:n.*746T=
NM_001352922.1:c.*709T= (SGSH) NP_001339851.1:n.*709T=
NR_148201.1:n.1640T= (SGSH)
XM_005257583.4:c.949+1769T= (SGSH) XP_005257640.1:n.949+1769T=
XM_017024952.1:c.*1563T= (SGSH) XP_016880441.1:n.*1563T=
XR_001752585.1:n.1679T= (SGSH)
XR_001752586.1:n.969+1769T= (SGSH)
XR_001752587.1:n.969+1769T= (SGSH)
XR_001752588.1:n.969+1769T= (SGSH)
XR_001752589.1:n.969+1769T= (SGSH)
XR_001752590.1:n.969+1769T= (SGSH)
XR_001752591.1:n.969+1769T= (SGSH)
XR_001752592.1:n.969+1769T= (SGSH)
XR_002958057.1:n.1024+1567T= (SGSH)
NM_000199.5:c.*150T= (SGSH) MANE Select NP_000190.1:n.*150T=
NM_001352921.2:c.*746T= (SGSH) NP_001339850.1:n.*746T=
NM_001352922.2:c.*709T= (SGSH) NP_001339851.1:n.*709T=
NR_148201.2:n.1573T= (SGSH)
NM_001352921.3:c.*746T= (SGSH) NP_001339850.1:n.*746T=