Canonical Allele Identifier: CA401358944

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210766-C-A
• MyVariant Identifiers: chr17:g.78184565C>A (hg19) ; chr17:g.80210766C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210766C>A , CM000679.2:g.80210766C>A	GRCh38
NC_000017.10:g.78184565C>A , CM000679.1:g.78184565C>A	GRCh37
NC_000017.9:g.75799160C>A	NCBI36
NG_008229.1:g.14635G>T
NG_032778.1:g.45775C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+1508C>A (CARD14)
ENST00000326317.11:c.1195G>T (SGSH) MANE Select	ENSP00000314606.6:p.Asp399Tyr
ENST00000326317.10:c.1195G>T (SGSH)	ENSP00000314606.6:p.Asp399Tyr
ENST00000572257.5:c.551+1305G>T (SGSH)
ENST00000573150.5:c.*405G>T (SGSH)	ENSP00000459280.1:n.*405G>T
ENST00000575282.5:n.4078G>T (SGSH)
ENST00000576856.1:c.449G>T (SGSH)	ENSP00000460720.1:n.449G>T
NM_000199.3:c.1195G>T (SGSH)	NP_000190.1:p.Asp399Tyr
XM_005257583.3:c.949+1305G>T (SGSH)	XP_005257640.1:n.949+1305G>T
NM_000199.4:c.1195G>T (SGSH)	NP_000190.1:p.Asp399Tyr
NM_001352921.1:c.*282G>T (SGSH)	NP_001339850.1:n.*282G>T
NM_001352922.1:c.*245G>T (SGSH)	NP_001339851.1:n.*245G>T
NR_148201.1:n.1176G>T (SGSH)
XM_005257583.4:c.949+1305G>T (SGSH)	XP_005257640.1:n.949+1305G>T
XM_017024952.1:c.*1099G>T (SGSH)	XP_016880441.1:n.*1099G>T
XR_001752585.1:n.1215G>T (SGSH)
XR_001752586.1:n.969+1305G>T (SGSH)
XR_001752587.1:n.969+1305G>T (SGSH)
XR_001752588.1:n.969+1305G>T (SGSH)
XR_001752589.1:n.969+1305G>T (SGSH)
XR_001752590.1:n.969+1305G>T (SGSH)
XR_001752591.1:n.969+1305G>T (SGSH)
XR_001752592.1:n.969+1305G>T (SGSH)
XR_002958057.1:n.1024+1103G>T (SGSH)
NM_000199.5:c.1195G>T (SGSH) MANE Select	NP_000190.1:p.Asp399Tyr
NM_001352921.2:c.*282G>T (SGSH)	NP_001339850.1:n.*282G>T
NM_001352922.2:c.*245G>T (SGSH)	NP_001339851.1:n.*245G>T
NR_148201.2:n.1109G>T (SGSH)
NM_001352921.3:c.*282G>T (SGSH)	NP_001339850.1:n.*282G>T