Canonical Allele Identifier: CA401358948

Gene: CARD14 SGSH

Linked Data

• MyVariant Identifiers: chr17:g.78184567A>T (hg19) ; chr17:g.80210768A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210768A>T , CM000679.2:g.80210768A>T	GRCh38
NC_000017.10:g.78184567A>T , CM000679.1:g.78184567A>T	GRCh37
NC_000017.9:g.75799162A>T	NCBI36
NG_008229.1:g.14633T>A
NG_032778.1:g.45777A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+1510A>T (CARD14)
ENST00000326317.11:c.1193T>A (SGSH) MANE Select	ENSP00000314606.6:p.Ile398Asn
ENST00000326317.10:c.1193T>A (SGSH)	ENSP00000314606.6:p.Ile398Asn
ENST00000572257.5:c.551+1303T>A (SGSH)
ENST00000573150.5:c.*403T>A (SGSH)	ENSP00000459280.1:n.*403T>A
ENST00000575282.5:n.4076T>A (SGSH)
ENST00000576856.1:c.447T>A (SGSH)	ENSP00000460720.1:n.447T>A
NM_000199.3:c.1193T>A (SGSH)	NP_000190.1:p.Ile398Asn
XM_005257583.3:c.949+1303T>A (SGSH)	XP_005257640.1:n.949+1303T>A
NM_000199.4:c.1193T>A (SGSH)	NP_000190.1:p.Ile398Asn
NM_001352921.1:c.*280T>A (SGSH)	NP_001339850.1:n.*280T>A
NM_001352922.1:c.*243T>A (SGSH)	NP_001339851.1:n.*243T>A
NR_148201.1:n.1174T>A (SGSH)
XM_005257583.4:c.949+1303T>A (SGSH)	XP_005257640.1:n.949+1303T>A
XM_017024952.1:c.*1097T>A (SGSH)	XP_016880441.1:n.*1097T>A
XR_001752585.1:n.1213T>A (SGSH)
XR_001752586.1:n.969+1303T>A (SGSH)
XR_001752587.1:n.969+1303T>A (SGSH)
XR_001752588.1:n.969+1303T>A (SGSH)
XR_001752589.1:n.969+1303T>A (SGSH)
XR_001752590.1:n.969+1303T>A (SGSH)
XR_001752591.1:n.969+1303T>A (SGSH)
XR_001752592.1:n.969+1303T>A (SGSH)
XR_002958057.1:n.1024+1101T>A (SGSH)
NM_000199.5:c.1193T>A (SGSH) MANE Select	NP_000190.1:p.Ile398Asn
NM_001352921.2:c.*280T>A (SGSH)	NP_001339850.1:n.*280T>A
NM_001352922.2:c.*243T>A (SGSH)	NP_001339851.1:n.*243T>A
NR_148201.2:n.1107T>A (SGSH)
NM_001352921.3:c.*280T>A (SGSH)	NP_001339850.1:n.*280T>A