Canonical Allele Identifier: CA401358918

Gene: CARD14 SGSH

Linked Data

• MyVariant Identifiers: chr17:g.78184555A>G (hg19) ; chr17:g.80210756A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210756A>G , CM000679.2:g.80210756A>G	GRCh38
NC_000017.10:g.78184555A>G , CM000679.1:g.78184555A>G	GRCh37
NC_000017.9:g.75799150A>G	NCBI36
NG_008229.1:g.14645T>C
NG_032778.1:g.45765A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+1498A>G (CARD14)
ENST00000326317.11:c.1205T>C (SGSH) MANE Select	ENSP00000314606.6:p.Phe402Ser
ENST00000326317.10:c.1205T>C (SGSH)	ENSP00000314606.6:p.Phe402Ser
ENST00000572257.5:c.551+1315T>C (SGSH)
ENST00000573150.5:c.*415T>C (SGSH)	ENSP00000459280.1:n.*415T>C
ENST00000575282.5:n.4088T>C (SGSH)
ENST00000576856.1:c.459T>C (SGSH)	ENSP00000460720.1:n.459T>C
NM_000199.3:c.1205T>C (SGSH)	NP_000190.1:p.Phe402Ser
XM_005257583.3:c.949+1315T>C (SGSH)	XP_005257640.1:n.949+1315T>C
NM_000199.4:c.1205T>C (SGSH)	NP_000190.1:p.Phe402Ser
NM_001352921.1:c.*292T>C (SGSH)	NP_001339850.1:n.*292T>C
NM_001352922.1:c.*255T>C (SGSH)	NP_001339851.1:n.*255T>C
NR_148201.1:n.1186T>C (SGSH)
XM_005257583.4:c.949+1315T>C (SGSH)	XP_005257640.1:n.949+1315T>C
XM_017024952.1:c.*1109T>C (SGSH)	XP_016880441.1:n.*1109T>C
XR_001752585.1:n.1225T>C (SGSH)
XR_001752586.1:n.969+1315T>C (SGSH)
XR_001752587.1:n.969+1315T>C (SGSH)
XR_001752588.1:n.969+1315T>C (SGSH)
XR_001752589.1:n.969+1315T>C (SGSH)
XR_001752590.1:n.969+1315T>C (SGSH)
XR_001752591.1:n.969+1315T>C (SGSH)
XR_001752592.1:n.969+1315T>C (SGSH)
XR_002958057.1:n.1024+1113T>C (SGSH)
NM_000199.5:c.1205T>C (SGSH) MANE Select	NP_000190.1:p.Phe402Ser
NM_001352921.2:c.*292T>C (SGSH)	NP_001339850.1:n.*292T>C
NM_001352922.2:c.*255T>C (SGSH)	NP_001339851.1:n.*255T>C
NR_148201.2:n.1119T>C (SGSH)
NM_001352921.3:c.*292T>C (SGSH)	NP_001339850.1:n.*292T>C