Canonical Allele Identifier: CA986727471

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs2041586117
• gnomAD v3: 17-80210380-G-T
• gnomAD v4: 17-80210380-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210380G>T , CM000679.2:g.80210380G>T	GRCh38
NC_000017.10:g.78184179G>T , CM000679.1:g.78184179G>T	GRCh37
NC_000017.9:g.75798774G>T	NCBI36
NG_008229.1:g.15021C>A
NG_032778.1:g.45389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1122G>T (CARD14)
ENST00000326317.11:c.*72C>A (SGSH) MANE Select	ENSP00000314606.6:n.*72C>A
ENST00000326317.10:c.*72C>A (SGSH)	ENSP00000314606.6:n.*72C>A
ENST00000572257.5:c.551+1691C>A (SGSH)
ENST00000573150.5:c.*791C>A (SGSH)	ENSP00000459280.1:n.*791C>A
ENST00000575282.5:n.4464C>A (SGSH)
NM_000199.3:c.*72C>A (SGSH)	NP_000190.1:n.*72C>A
XM_005257583.3:c.949+1691C>A (SGSH)	XP_005257640.1:n.949+1691C>A
NM_000199.4:c.*72C>A (SGSH)	NP_000190.1:n.*72C>A
NM_001352921.1:c.*668C>A (SGSH)	NP_001339850.1:n.*668C>A
NM_001352922.1:c.*631C>A (SGSH)	NP_001339851.1:n.*631C>A
NR_148201.1:n.1562C>A (SGSH)
XM_005257583.4:c.949+1691C>A (SGSH)	XP_005257640.1:n.949+1691C>A
XM_017024952.1:c.*1485C>A (SGSH)	XP_016880441.1:n.*1485C>A
XR_001752585.1:n.1601C>A (SGSH)
XR_001752586.1:n.969+1691C>A (SGSH)
XR_001752587.1:n.969+1691C>A (SGSH)
XR_001752588.1:n.969+1691C>A (SGSH)
XR_001752589.1:n.969+1691C>A (SGSH)
XR_001752590.1:n.969+1691C>A (SGSH)
XR_001752591.1:n.969+1691C>A (SGSH)
XR_001752592.1:n.969+1691C>A (SGSH)
XR_002958057.1:n.1024+1489C>A (SGSH)
NM_000199.5:c.*72C>A (SGSH) MANE Select	NP_000190.1:n.*72C>A
NM_001352921.2:c.*668C>A (SGSH)	NP_001339850.1:n.*668C>A
NM_001352922.2:c.*631C>A (SGSH)	NP_001339851.1:n.*631C>A
NR_148201.2:n.1495C>A (SGSH)
NM_001352921.3:c.*668C>A (SGSH)	NP_001339850.1:n.*668C>A