Canonical Allele Identifier: CA401361277

Gene: CARD14 SGSH

Linked Data

• MyVariant Identifiers: chr17:g.78187634A>T (hg19) ; chr17:g.80213835A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213835A>T , CM000679.2:g.80213835A>T	GRCh38
NC_000017.10:g.78187634A>T , CM000679.1:g.78187634A>T	GRCh37
NC_000017.9:g.75802229A>T	NCBI36
NG_008229.1:g.11566T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-2031A>T (CARD14)
ENST00000326317.11:c.714T>A (SGSH) MANE Select	ENSP00000314606.6:p.Ala238=
ENST00000326317.10:c.714T>A (SGSH)	ENSP00000314606.6:p.Ala238=
ENST00000570923.1:c.749T>A (SGSH)	ENSP00000458200.1:p.Leu250His
ENST00000572208.5:n.581T>A (SGSH)
ENST00000572257.5:c.316T>A (SGSH)
ENST00000573150.5:c.608T>A (SGSH)	ENSP00000459280.1:p.Leu203His
ENST00000574505.5:c.573T>A (SGSH)
ENST00000575282.5:n.1009T>A (SGSH)
ENST00000576941.5:c.*130T>A (SGSH)	ENSP00000461160.1:n.*130T>A
NM_000199.3:c.714T>A (SGSH)	NP_000190.1:p.Ala238=
XM_005257582.2:c.714T>A (SGSH)	XP_005257639.1:p.Ala238=
XM_005257583.3:c.714T>A (SGSH)	XP_005257640.1:p.Ala238=
XM_011525126.1:c.714T>A (SGSH)	XP_011523428.1:p.Ala238=
XM_011525127.1:c.714T>A (SGSH)	XP_011523429.1:p.Ala238=
XR_934532.1:n.734T>A (SGSH)
NM_000199.4:c.714T>A (SGSH)	NP_000190.1:p.Ala238=
NM_001352921.1:c.714T>A (SGSH)	NP_001339850.1:p.Ala238=
NM_001352922.1:c.714T>A (SGSH)	NP_001339851.1:p.Ala238=
NR_148201.1:n.695T>A (SGSH)
XM_005257583.4:c.714T>A (SGSH)	XP_005257640.1:p.Ala238=
XM_017024952.1:c.714T>A (SGSH)	XP_016880441.1:p.Ala238=
XR_001752585.1:n.734T>A (SGSH)
XR_001752586.1:n.734T>A (SGSH)
XR_001752587.1:n.734T>A (SGSH)
XR_001752588.1:n.734T>A (SGSH)
XR_001752589.1:n.734T>A (SGSH)
XR_001752590.1:n.734T>A (SGSH)
XR_001752591.1:n.734T>A (SGSH)
XR_001752592.1:n.734T>A (SGSH)
XR_002958057.1:n.734T>A (SGSH)
XR_934532.2:n.734T>A (SGSH)
NM_000199.5:c.714T>A (SGSH) MANE Select	NP_000190.1:p.Ala238=
NM_001352921.2:c.714T>A (SGSH)	NP_001339850.1:p.Ala238=
NM_001352922.2:c.714T>A (SGSH)	NP_001339851.1:p.Ala238=
NR_148201.2:n.628T>A (SGSH)
NM_001352921.3:c.714T>A (SGSH)	NP_001339850.1:p.Ala238=