Canonical Allele Identifier: CA401361599

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213884A>T , CM000679.2:g.80213884A>T GRCh38
NC_000017.10:g.78187683A>T , CM000679.1:g.78187683A>T GRCh37
NC_000017.9:g.75802278A>T NCBI36
NG_008229.1:g.11517T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-1982A>T (CARD14)
ENST00000326317.11:c.665T>A (SGSH) MANE Select ENSP00000314606.6:p.Val222Glu
ENST00000326317.10:c.665T>A (SGSH) ENSP00000314606.6:p.Val222Glu
ENST00000570923.1:c.700T>A (SGSH) ENSP00000458200.1:p.Cys234Ser
ENST00000572208.5:n.532T>A (SGSH)
ENST00000572257.5:c.267T>A (SGSH)
ENST00000573150.5:c.559T>A (SGSH) ENSP00000459280.1:p.Cys187Ser
ENST00000574505.5:c.524T>A (SGSH)
ENST00000575282.5:n.960T>A (SGSH)
ENST00000576941.5:c.*81T>A (SGSH) ENSP00000461160.1:n.*81T>A
NM_000199.3:c.665T>A (SGSH) NP_000190.1:p.Val222Glu
XM_005257582.2:c.665T>A (SGSH) XP_005257639.1:p.Val222Glu
XM_005257583.3:c.665T>A (SGSH) XP_005257640.1:p.Val222Glu
XM_011525126.1:c.665T>A (SGSH) XP_011523428.1:p.Val222Glu
XM_011525127.1:c.665T>A (SGSH) XP_011523429.1:p.Val222Glu
XR_934532.1:n.685T>A (SGSH)
NM_000199.4:c.665T>A (SGSH) NP_000190.1:p.Val222Glu
NM_001352921.1:c.665T>A (SGSH) NP_001339850.1:p.Val222Glu
NM_001352922.1:c.665T>A (SGSH) NP_001339851.1:p.Val222Glu
NR_148201.1:n.646T>A (SGSH)
XM_005257583.4:c.665T>A (SGSH) XP_005257640.1:p.Val222Glu
XM_017024952.1:c.665T>A (SGSH) XP_016880441.1:p.Val222Glu
XR_001752585.1:n.685T>A (SGSH)
XR_001752586.1:n.685T>A (SGSH)
XR_001752587.1:n.685T>A (SGSH)
XR_001752588.1:n.685T>A (SGSH)
XR_001752589.1:n.685T>A (SGSH)
XR_001752590.1:n.685T>A (SGSH)
XR_001752591.1:n.685T>A (SGSH)
XR_001752592.1:n.685T>A (SGSH)
XR_002958057.1:n.685T>A (SGSH)
XR_934532.2:n.685T>A (SGSH)
NM_000199.5:c.665T>A (SGSH) MANE Select NP_000190.1:p.Val222Glu
NM_001352921.2:c.665T>A (SGSH) NP_001339850.1:p.Val222Glu
NM_001352922.2:c.665T>A (SGSH) NP_001339851.1:p.Val222Glu
NR_148201.2:n.579T>A (SGSH)
NM_001352921.3:c.665T>A (SGSH) NP_001339850.1:p.Val222Glu