Canonical Allele Identifier: CA294890147

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs773111649
• gnomAD v4: 17-80210218-C-A
• MyVariant Identifiers: chr17:g.78184017C>A (hg19) ; chr17:g.80210218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210218C>A , CM000679.2:g.80210218C>A	GRCh38
NC_000017.10:g.78184017C>A , CM000679.1:g.78184017C>A	GRCh37
NC_000017.9:g.75798612C>A	NCBI36
NG_008229.1:g.15183G>T
NG_032778.1:g.45227C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+960C>A (CARD14)
ENST00000326317.11:c.*234G>T (SGSH) MANE Select	ENSP00000314606.6:n.*234G>T
ENST00000326317.10:c.*234G>T (SGSH)	ENSP00000314606.6:n.*234G>T
ENST00000572257.5:c.551+1853G>T (SGSH)
ENST00000573150.5:c.*953G>T (SGSH)	ENSP00000459280.1:n.*953G>T
ENST00000575282.5:n.4626G>T (SGSH)
NM_000199.3:c.*234G>T (SGSH)	NP_000190.1:n.*234G>T
XM_005257583.3:c.949+1853G>T (SGSH)	XP_005257640.1:n.949+1853G>T
NM_000199.4:c.*234G>T (SGSH)	NP_000190.1:n.*234G>T
NM_001352921.1:c.*830G>T (SGSH)	NP_001339850.1:n.*830G>T
NM_001352922.1:c.*793G>T (SGSH)	NP_001339851.1:n.*793G>T
NR_148201.1:n.1724G>T (SGSH)
XM_005257583.4:c.949+1853G>T (SGSH)	XP_005257640.1:n.949+1853G>T
XM_017024952.1:c.*1647G>T (SGSH)	XP_016880441.1:n.*1647G>T
XR_001752585.1:n.1763G>T (SGSH)
XR_001752586.1:n.969+1853G>T (SGSH)
XR_001752587.1:n.969+1853G>T (SGSH)
XR_001752588.1:n.969+1853G>T (SGSH)
XR_001752589.1:n.969+1853G>T (SGSH)
XR_001752590.1:n.969+1853G>T (SGSH)
XR_001752591.1:n.969+1853G>T (SGSH)
XR_001752592.1:n.969+1853G>T (SGSH)
XR_002958057.1:n.1024+1651G>T (SGSH)
NM_000199.5:c.*234G>T (SGSH) MANE Select	NP_000190.1:n.*234G>T
NM_001352921.2:c.*830G>T (SGSH)	NP_001339850.1:n.*830G>T
NM_001352922.2:c.*793G>T (SGSH)	NP_001339851.1:n.*793G>T
NR_148201.2:n.1657G>T (SGSH)
NM_001352921.3:c.*830G>T (SGSH)	NP_001339850.1:n.*830G>T