Canonical Allele Identifier: CA2640319218

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210171-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210171T>G , CM000679.2:g.80210171T>G	GRCh38
NC_000017.10:g.78183970T>G , CM000679.1:g.78183970T>G	GRCh37
NC_000017.9:g.75798565T>G	NCBI36
NG_008229.1:g.15230A>C
NG_032778.1:g.45180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+913T>G (CARD14)
ENST00000326317.11:c.*281A>C (SGSH) MANE Select	ENSP00000314606.6:n.*281A>C
ENST00000326317.10:c.*281A>C (SGSH)	ENSP00000314606.6:n.*281A>C
ENST00000572257.5:c.551+1900A>C (SGSH)
ENST00000573150.5:c.*1000A>C (SGSH)	ENSP00000459280.1:n.*1000A>C
ENST00000575282.5:n.4673A>C (SGSH)
NM_000199.3:c.*281A>C (SGSH)	NP_000190.1:n.*281A>C
XM_005257583.3:c.949+1900A>C (SGSH)	XP_005257640.1:n.949+1900A>C
NM_000199.4:c.*281A>C (SGSH)	NP_000190.1:n.*281A>C
NM_001352921.1:c.*877A>C (SGSH)	NP_001339850.1:n.*877A>C
NM_001352922.1:c.*840A>C (SGSH)	NP_001339851.1:n.*840A>C
NR_148201.1:n.1771A>C (SGSH)
XM_005257583.4:c.949+1900A>C (SGSH)	XP_005257640.1:n.949+1900A>C
XM_017024952.1:c.*1694A>C (SGSH)	XP_016880441.1:n.*1694A>C
XR_001752585.1:n.1810A>C (SGSH)
XR_001752586.1:n.969+1900A>C (SGSH)
XR_001752587.1:n.969+1900A>C (SGSH)
XR_001752588.1:n.969+1900A>C (SGSH)
XR_001752589.1:n.969+1900A>C (SGSH)
XR_001752590.1:n.969+1900A>C (SGSH)
XR_001752591.1:n.969+1900A>C (SGSH)
XR_001752592.1:n.969+1900A>C (SGSH)
XR_002958057.1:n.1024+1698A>C (SGSH)
NM_000199.5:c.*281A>C (SGSH) MANE Select	NP_000190.1:n.*281A>C
NM_001352921.2:c.*877A>C (SGSH)	NP_001339850.1:n.*877A>C
NM_001352922.2:c.*840A>C (SGSH)	NP_001339851.1:n.*840A>C
NR_148201.2:n.1704A>C (SGSH)
NM_001352921.3:c.*877A>C (SGSH)	NP_001339850.1:n.*877A>C