Canonical Allele Identifier: CA2640319488

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210258-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210258A>G , CM000679.2:g.80210258A>G	GRCh38
NC_000017.10:g.78184057A>G , CM000679.1:g.78184057A>G	GRCh37
NC_000017.9:g.75798652A>G	NCBI36
NG_008229.1:g.15143T>C
NG_032778.1:g.45267A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1000A>G (CARD14)
ENST00000326317.11:c.*194T>C (SGSH) MANE Select	ENSP00000314606.6:n.*194T>C
ENST00000326317.10:c.*194T>C (SGSH)	ENSP00000314606.6:n.*194T>C
ENST00000572257.5:c.551+1813T>C (SGSH)
ENST00000573150.5:c.*913T>C (SGSH)	ENSP00000459280.1:n.*913T>C
ENST00000575282.5:n.4586T>C (SGSH)
NM_000199.3:c.*194T>C (SGSH)	NP_000190.1:n.*194T>C
XM_005257583.3:c.949+1813T>C (SGSH)	XP_005257640.1:n.949+1813T>C
NM_000199.4:c.*194T>C (SGSH)	NP_000190.1:n.*194T>C
NM_001352921.1:c.*790T>C (SGSH)	NP_001339850.1:n.*790T>C
NM_001352922.1:c.*753T>C (SGSH)	NP_001339851.1:n.*753T>C
NR_148201.1:n.1684T>C (SGSH)
XM_005257583.4:c.949+1813T>C (SGSH)	XP_005257640.1:n.949+1813T>C
XM_017024952.1:c.*1607T>C (SGSH)	XP_016880441.1:n.*1607T>C
XR_001752585.1:n.1723T>C (SGSH)
XR_001752586.1:n.969+1813T>C (SGSH)
XR_001752587.1:n.969+1813T>C (SGSH)
XR_001752588.1:n.969+1813T>C (SGSH)
XR_001752589.1:n.969+1813T>C (SGSH)
XR_001752590.1:n.969+1813T>C (SGSH)
XR_001752591.1:n.969+1813T>C (SGSH)
XR_001752592.1:n.969+1813T>C (SGSH)
XR_002958057.1:n.1024+1611T>C (SGSH)
NM_000199.5:c.*194T>C (SGSH) MANE Select	NP_000190.1:n.*194T>C
NM_001352921.2:c.*790T>C (SGSH)	NP_001339850.1:n.*790T>C
NM_001352922.2:c.*753T>C (SGSH)	NP_001339851.1:n.*753T>C
NR_148201.2:n.1617T>C (SGSH)
NM_001352921.3:c.*790T>C (SGSH)	NP_001339850.1:n.*790T>C