Canonical Allele Identifier: CA502198979

Gene: CARD14 SGSH

Linked Data

• MyVariant Identifiers: chr17:g.78179409C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80205610C>A , CM000679.2:g.80205610C>A	GRCh38
NC_000017.10:g.78179409C>A , CM000679.1:g.78179409C>A	GRCh37
NC_000017.9:g.75794004C>A	NCBI36
NG_032778.1:g.40619C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000571427.2:c.2649C>A (CARD14)	ENSP00000516501.1:p.Arg883=
ENST00000703566.1:c.*485C>A (CARD14)	ENSP00000515382.1:n.*485C>A
ENST00000703567.1:c.*485C>A (CARD14)	ENSP00000515383.1:n.*485C>A
ENST00000703568.1:c.*1109C>A (CARD14)	ENSP00000515384.1:n.*1109C>A
ENST00000703569.1:n.2850C>A (CARD14)
ENST00000703570.1:n.1565C>A (CARD14)
ENST00000703571.1:n.1497C>A (CARD14)
ENST00000703572.1:n.533C>A (CARD14)
ENST00000703573.1:n.867C>A (CARD14)
ENST00000648509.2:c.2649C>A (CARD14) MANE Select	ENSP00000498071.1:p.Arg883=
ENST00000649277.1:n.1406C>A (CARD14)
ENST00000650867.1:c.*94C>A (CARD14)	ENSP00000498570.1:n.*94C>A
ENST00000651068.1:c.*1008C>A (CARD14)	ENSP00000498274.1:n.*1008C>A
ENST00000651672.1:c.2676C>A (CARD14)	ENSP00000499145.1:p.Arg892=
ENST00000344227.6:c.2649C>A (CARD14)	ENSP00000344549.2:p.Arg883=
ENST00000573882.5:c.2649C>A (CARD14)	ENSP00000458715.1:p.Arg883=
ENST00000575500.5:c.*1109C>A (CARD14)	ENSP00000460883.1:n.*1109C>A
NM_024110.4:c.2649C>A (CARD14)	NP_077015.2:p.Arg883=
NR_047566.1:n.2824C>A (CARD14)
XM_011525212.1:c.2649C>A (CARD14)	XP_011523514.1:p.Arg883=
XM_011525213.1:c.2649C>A (CARD14)	XP_011523515.1:p.Arg883=
XM_011525214.1:c.2649C>A (CARD14)	XP_011523516.1:p.Arg883=
XM_011525215.1:c.2649C>A (CARD14)	XP_011523517.1:p.Arg883=
XM_011525216.1:c.2649C>A (CARD14)	XP_011523518.1:p.Arg883=
XM_011525217.1:c.2649C>A (CARD14)	XP_011523519.1:p.Arg883=
XM_011525218.1:c.2649C>A (CARD14)	XP_011523520.1:p.Arg883=
XM_011525219.1:c.*94C>A (CARD14)	XP_011523521.1:n.*94C>A
NM_001366385.1:c.2649C>A (CARD14) MANE Select	NP_001353314.1:p.Arg883=
XM_011525218.2:c.2649C>A (CARD14)	XP_011523520.1:p.Arg883=
XM_024450934.1:c.2646C>A (CARD14)	XP_024306702.1:p.Arg882=
XM_024450935.1:c.2649C>A (CARD14)	XP_024306703.1:p.Arg883=
XR_001752586.1:n.1486G>T (SGSH)
XR_001752587.1:n.1293G>T (SGSH)
XR_001752588.1:n.1486G>T (SGSH)
XR_001752589.1:n.1486G>T (SGSH)
XR_001752590.1:n.1486G>T (SGSH)
XR_001752591.1:n.1486G>T (SGSH)
XR_001752592.1:n.1486G>T (SGSH)
XR_002958057.1:n.2083G>T (SGSH)
XR_002958065.1:n.2799C>A (CARD14)
NR_047566.2:n.2786C>A (CARD14)