Canonical Allele Identifier: CA10651273

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80209374T>C , CM000679.2:g.80209374T>C	GRCh38
NC_000017.10:g.78183173T>C , CM000679.1:g.78183173T>C	GRCh37
NC_000017.9:g.75797768T>C	NCBI36
NG_008229.1:g.16027A>G
NG_032778.1:g.44383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+116T>C (CARD14)
ENST00000326317.11:c.*1078A>G (SGSH) MANE Select	ENSP00000314606.6:n.*1078A>G
ENST00000326317.10:c.*1078A>G (SGSH)	ENSP00000314606.6:n.*1078A>G
ENST00000571156.1:n.473+28A>G (SGSH)
ENST00000572257.5:c.552-1689A>G (SGSH)
ENST00000573150.5:c.*1797A>G (SGSH)	ENSP00000459280.1:n.*1797A>G
ENST00000575282.5:n.5470A>G (SGSH)
ENST00000575484.1:n.137+32A>G (SGSH)
NM_000199.3:c.*1078A>G (SGSH)	NP_000190.1:n.*1078A>G
XM_005257583.3:c.950-1689A>G (SGSH)	XP_005257640.1:n.950-1689A>G
NM_000199.4:c.*1078A>G (SGSH)	NP_000190.1:n.*1078A>G
NM_001352921.1:c.*1674A>G (SGSH)	NP_001339850.1:n.*1674A>G
NM_001352922.1:c.*1637A>G (SGSH)	NP_001339851.1:n.*1637A>G
NR_148201.1:n.2568A>G (SGSH)
XM_005257583.4:c.950-1689A>G (SGSH)	XP_005257640.1:n.950-1689A>G
XM_017024952.1:c.*2491A>G (SGSH)	XP_016880441.1:n.*2491A>G
XR_001752585.1:n.2579+28A>G (SGSH)
XR_001752586.1:n.970-1689A>G (SGSH)
XR_001752587.1:n.970-1689A>G (SGSH)
XR_001752588.1:n.970-1689A>G (SGSH)
XR_001752589.1:n.970-1689A>G (SGSH)
XR_001752590.1:n.970-1689A>G (SGSH)
XR_001752591.1:n.970-1689A>G (SGSH)
XR_001752592.1:n.970-1689A>G (SGSH)
XR_002958057.1:n.1025-1689A>G (SGSH)
NM_000199.5:c.*1078A>G (SGSH) MANE Select	NP_000190.1:n.*1078A>G
NM_001352921.2:c.*1674A>G (SGSH)	NP_001339850.1:n.*1674A>G
NM_001352922.2:c.*1637A>G (SGSH)	NP_001339851.1:n.*1637A>G
NR_148201.2:n.2501A>G (SGSH)
NM_001352921.3:c.*1674A>G (SGSH)	NP_001339850.1:n.*1674A>G