Canonical Allele Identifier: CA914213134

Gene: CARD14 SGSH

Linked Data

• gnomAD v2: 17-78183975-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210176T>A , CM000679.2:g.80210176T>A	GRCh38
NC_000017.10:g.78183975T>A , CM000679.1:g.78183975T>A	GRCh37
NC_000017.9:g.75798570T>A	NCBI36
NG_008229.1:g.15225A>T
NG_032778.1:g.45185T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+918T>A (CARD14)
ENST00000326317.11:c.*276A>T (SGSH) MANE Select	ENSP00000314606.6:n.*276A>T
ENST00000326317.10:c.*276A>T (SGSH)	ENSP00000314606.6:n.*276A>T
ENST00000572257.5:c.551+1895A>T (SGSH)
ENST00000573150.5:c.*995A>T (SGSH)	ENSP00000459280.1:n.*995A>T
ENST00000575282.5:n.4668A>T (SGSH)
NM_000199.3:c.*276A>T (SGSH)	NP_000190.1:n.*276A>T
XM_005257583.3:c.949+1895A>T (SGSH)	XP_005257640.1:n.949+1895A>T
NM_000199.4:c.*276A>T (SGSH)	NP_000190.1:n.*276A>T
NM_001352921.1:c.*872A>T (SGSH)	NP_001339850.1:n.*872A>T
NM_001352922.1:c.*835A>T (SGSH)	NP_001339851.1:n.*835A>T
NR_148201.1:n.1766A>T (SGSH)
XM_005257583.4:c.949+1895A>T (SGSH)	XP_005257640.1:n.949+1895A>T
XM_017024952.1:c.*1689A>T (SGSH)	XP_016880441.1:n.*1689A>T
XR_001752585.1:n.1805A>T (SGSH)
XR_001752586.1:n.969+1895A>T (SGSH)
XR_001752587.1:n.969+1895A>T (SGSH)
XR_001752588.1:n.969+1895A>T (SGSH)
XR_001752589.1:n.969+1895A>T (SGSH)
XR_001752590.1:n.969+1895A>T (SGSH)
XR_001752591.1:n.969+1895A>T (SGSH)
XR_001752592.1:n.969+1895A>T (SGSH)
XR_002958057.1:n.1024+1693A>T (SGSH)
NM_000199.5:c.*276A>T (SGSH) MANE Select	NP_000190.1:n.*276A>T
NM_001352921.2:c.*872A>T (SGSH)	NP_001339850.1:n.*872A>T
NM_001352922.2:c.*835A>T (SGSH)	NP_001339851.1:n.*835A>T
NR_148201.2:n.1699A>T (SGSH)
NM_001352921.3:c.*872A>T (SGSH)	NP_001339850.1:n.*872A>T