Canonical Allele Identifier: CA2640319425

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210245-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210245A>C , CM000679.2:g.80210245A>C	GRCh38
NC_000017.10:g.78184044A>C , CM000679.1:g.78184044A>C	GRCh37
NC_000017.9:g.75798639A>C	NCBI36
NG_008229.1:g.15156T>G
NG_032778.1:g.45254A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+987A>C (CARD14)
ENST00000326317.11:c.*207T>G (SGSH) MANE Select	ENSP00000314606.6:n.*207T>G
ENST00000326317.10:c.*207T>G (SGSH)	ENSP00000314606.6:n.*207T>G
ENST00000572257.5:c.551+1826T>G (SGSH)
ENST00000573150.5:c.*926T>G (SGSH)	ENSP00000459280.1:n.*926T>G
ENST00000575282.5:n.4599T>G (SGSH)
NM_000199.3:c.*207T>G (SGSH)	NP_000190.1:n.*207T>G
XM_005257583.3:c.949+1826T>G (SGSH)	XP_005257640.1:n.949+1826T>G
NM_000199.4:c.*207T>G (SGSH)	NP_000190.1:n.*207T>G
NM_001352921.1:c.*803T>G (SGSH)	NP_001339850.1:n.*803T>G
NM_001352922.1:c.*766T>G (SGSH)	NP_001339851.1:n.*766T>G
NR_148201.1:n.1697T>G (SGSH)
XM_005257583.4:c.949+1826T>G (SGSH)	XP_005257640.1:n.949+1826T>G
XM_017024952.1:c.*1620T>G (SGSH)	XP_016880441.1:n.*1620T>G
XR_001752585.1:n.1736T>G (SGSH)
XR_001752586.1:n.969+1826T>G (SGSH)
XR_001752587.1:n.969+1826T>G (SGSH)
XR_001752588.1:n.969+1826T>G (SGSH)
XR_001752589.1:n.969+1826T>G (SGSH)
XR_001752590.1:n.969+1826T>G (SGSH)
XR_001752591.1:n.969+1826T>G (SGSH)
XR_001752592.1:n.969+1826T>G (SGSH)
XR_002958057.1:n.1024+1624T>G (SGSH)
NM_000199.5:c.*207T>G (SGSH) MANE Select	NP_000190.1:n.*207T>G
NM_001352921.2:c.*803T>G (SGSH)	NP_001339850.1:n.*803T>G
NM_001352922.2:c.*766T>G (SGSH)	NP_001339851.1:n.*766T>G
NR_148201.2:n.1630T>G (SGSH)
NM_001352921.3:c.*803T>G (SGSH)	NP_001339850.1:n.*803T>G