Canonical Allele Identifier: CA502404351

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210545-C-T
• MyVariant Identifiers: chr17:g.78184344C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210545C>T , CM000679.2:g.80210545C>T	GRCh38
NC_000017.10:g.78184344C>T , CM000679.1:g.78184344C>T	GRCh37
NC_000017.9:g.75798939C>T	NCBI36
NG_008229.1:g.14856G>A
NG_032778.1:g.45554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1287C>T (CARD14)
ENST00000326317.11:c.1416G>A (SGSH) MANE Select	ENSP00000314606.6:p.Gln472=
ENST00000326317.10:c.1416G>A (SGSH)	ENSP00000314606.6:p.Gln472=
ENST00000572257.5:c.551+1526G>A (SGSH)
ENST00000573150.5:c.*626G>A (SGSH)	ENSP00000459280.1:n.*626G>A
ENST00000575282.5:n.4299G>A (SGSH)
ENST00000576856.1:c.670G>A (SGSH)	ENSP00000460720.1:n.670G>A
NM_000199.3:c.1416G>A (SGSH)	NP_000190.1:p.Gln472=
XM_005257583.3:c.949+1526G>A (SGSH)	XP_005257640.1:n.949+1526G>A
NM_000199.4:c.1416G>A (SGSH)	NP_000190.1:p.Gln472=
NM_001352921.1:c.*503G>A (SGSH)	NP_001339850.1:n.*503G>A
NM_001352922.1:c.*466G>A (SGSH)	NP_001339851.1:n.*466G>A
NR_148201.1:n.1397G>A (SGSH)
XM_005257583.4:c.949+1526G>A (SGSH)	XP_005257640.1:n.949+1526G>A
XM_017024952.1:c.*1320G>A (SGSH)	XP_016880441.1:n.*1320G>A
XR_001752585.1:n.1436G>A (SGSH)
XR_001752586.1:n.969+1526G>A (SGSH)
XR_001752587.1:n.969+1526G>A (SGSH)
XR_001752588.1:n.969+1526G>A (SGSH)
XR_001752589.1:n.969+1526G>A (SGSH)
XR_001752590.1:n.969+1526G>A (SGSH)
XR_001752591.1:n.969+1526G>A (SGSH)
XR_001752592.1:n.969+1526G>A (SGSH)
XR_002958057.1:n.1024+1324G>A (SGSH)
NM_000199.5:c.1416G>A (SGSH) MANE Select	NP_000190.1:p.Gln472=
NM_001352921.2:c.*503G>A (SGSH)	NP_001339850.1:n.*503G>A
NM_001352922.2:c.*466G>A (SGSH)	NP_001339851.1:n.*466G>A
NR_148201.2:n.1330G>A (SGSH)
NM_001352921.3:c.*503G>A (SGSH)	NP_001339850.1:n.*503G>A