Canonical Allele Identifier: CA502404676

Gene: CARD14 SGSH

Linked Data

• MyVariant Identifiers: chr17:g.78184572A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210773A>G , CM000679.2:g.80210773A>G	GRCh38
NC_000017.10:g.78184572A>G , CM000679.1:g.78184572A>G	GRCh37
NC_000017.9:g.75799167A>G	NCBI36
NG_008229.1:g.14628T>C
NG_032778.1:g.45782A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1515A>G (CARD14)
ENST00000326317.11:c.1188T>C (SGSH) MANE Select	ENSP00000314606.6:p.Phe396=
ENST00000326317.10:c.1188T>C (SGSH)	ENSP00000314606.6:p.Phe396=
ENST00000572257.5:c.551+1298T>C (SGSH)
ENST00000573150.5:c.*398T>C (SGSH)	ENSP00000459280.1:n.*398T>C
ENST00000575282.5:n.4071T>C (SGSH)
ENST00000576856.1:c.442T>C (SGSH)	ENSP00000460720.1:n.442T>C
NM_000199.3:c.1188T>C (SGSH)	NP_000190.1:p.Phe396=
XM_005257583.3:c.949+1298T>C (SGSH)	XP_005257640.1:n.949+1298T>C
NM_000199.4:c.1188T>C (SGSH)	NP_000190.1:p.Phe396=
NM_001352921.1:c.*275T>C (SGSH)	NP_001339850.1:n.*275T>C
NM_001352922.1:c.*238T>C (SGSH)	NP_001339851.1:n.*238T>C
NR_148201.1:n.1169T>C (SGSH)
XM_005257583.4:c.949+1298T>C (SGSH)	XP_005257640.1:n.949+1298T>C
XM_017024952.1:c.*1092T>C (SGSH)	XP_016880441.1:n.*1092T>C
XR_001752585.1:n.1208T>C (SGSH)
XR_001752586.1:n.969+1298T>C (SGSH)
XR_001752587.1:n.969+1298T>C (SGSH)
XR_001752588.1:n.969+1298T>C (SGSH)
XR_001752589.1:n.969+1298T>C (SGSH)
XR_001752590.1:n.969+1298T>C (SGSH)
XR_001752591.1:n.969+1298T>C (SGSH)
XR_001752592.1:n.969+1298T>C (SGSH)
XR_002958057.1:n.1024+1096T>C (SGSH)
NM_000199.5:c.1188T>C (SGSH) MANE Select	NP_000190.1:p.Phe396=
NM_001352921.2:c.*275T>C (SGSH)	NP_001339850.1:n.*275T>C
NM_001352922.2:c.*238T>C (SGSH)	NP_001339851.1:n.*238T>C
NR_148201.2:n.1102T>C (SGSH)
NM_001352921.3:c.*275T>C (SGSH)	NP_001339850.1:n.*275T>C