Canonical Allele Identifier: CA401358326

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210474-T-C
• MyVariant Identifiers: chr17:g.78184273T>C (hg19) ; chr17:g.80210474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210474T>C , CM000679.2:g.80210474T>C	GRCh38
NC_000017.10:g.78184273T>C , CM000679.1:g.78184273T>C	GRCh37
NC_000017.9:g.75798868T>C	NCBI36
NG_008229.1:g.14927A>G
NG_032778.1:g.45483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1216T>C (CARD14)
ENST00000326317.11:c.1487A>G (SGSH) MANE Select	ENSP00000314606.6:p.Gln496Arg
ENST00000326317.10:c.1487A>G (SGSH)	ENSP00000314606.6:p.Gln496Arg
ENST00000572257.5:c.551+1597A>G (SGSH)
ENST00000573150.5:c.*697A>G (SGSH)	ENSP00000459280.1:n.*697A>G
ENST00000575282.5:n.4370A>G (SGSH)
ENST00000576856.1:c.741A>G (SGSH)	ENSP00000460720.1:n.741A>G
NM_000199.3:c.1487A>G (SGSH)	NP_000190.1:p.Gln496Arg
XM_005257583.3:c.949+1597A>G (SGSH)	XP_005257640.1:n.949+1597A>G
NM_000199.4:c.1487A>G (SGSH)	NP_000190.1:p.Gln496Arg
NM_001352921.1:c.*574A>G (SGSH)	NP_001339850.1:n.*574A>G
NM_001352922.1:c.*537A>G (SGSH)	NP_001339851.1:n.*537A>G
NR_148201.1:n.1468A>G (SGSH)
XM_005257583.4:c.949+1597A>G (SGSH)	XP_005257640.1:n.949+1597A>G
XM_017024952.1:c.*1391A>G (SGSH)	XP_016880441.1:n.*1391A>G
XR_001752585.1:n.1507A>G (SGSH)
XR_001752586.1:n.969+1597A>G (SGSH)
XR_001752587.1:n.969+1597A>G (SGSH)
XR_001752588.1:n.969+1597A>G (SGSH)
XR_001752589.1:n.969+1597A>G (SGSH)
XR_001752590.1:n.969+1597A>G (SGSH)
XR_001752591.1:n.969+1597A>G (SGSH)
XR_001752592.1:n.969+1597A>G (SGSH)
XR_002958057.1:n.1024+1395A>G (SGSH)
NM_000199.5:c.1487A>G (SGSH) MANE Select	NP_000190.1:p.Gln496Arg
NM_001352921.2:c.*574A>G (SGSH)	NP_001339850.1:n.*574A>G
NM_001352922.2:c.*537A>G (SGSH)	NP_001339851.1:n.*537A>G
NR_148201.2:n.1401A>G (SGSH)
NM_001352921.3:c.*574A>G (SGSH)	NP_001339850.1:n.*574A>G