Canonical Allele Identifier: CA16607531

Linked Data

ClinVar Variation Id: 383967
dbSNP Id: rs1057521801

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213876A>G , CM000679.2:g.80213876A>G GRCh38
NC_000017.10:g.78187675A>G , CM000679.1:g.78187675A>G GRCh37
NC_000017.9:g.75802270A>G NCBI36
NG_008229.1:g.11525T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-1990A>G (CARD14)
ENST00000326317.11:c.673T>C (SGSH) MANE Select ENSP00000314606.6:p.Phe225Leu
ENST00000326317.10:c.673T>C (SGSH) ENSP00000314606.6:p.Phe225Leu
ENST00000570923.1:c.708T>C (SGSH) ENSP00000458200.1:p.Thr236=
ENST00000572208.5:n.540T>C (SGSH)
ENST00000572257.5:c.275T>C (SGSH)
ENST00000573150.5:c.567T>C (SGSH) ENSP00000459280.1:p.Thr189=
ENST00000574505.5:c.532T>C (SGSH)
ENST00000575282.5:n.968T>C (SGSH)
ENST00000576941.5:c.*89T>C (SGSH) ENSP00000461160.1:n.*89T>C
NM_000199.3:c.673T>C (SGSH) NP_000190.1:p.Phe225Leu
XM_005257582.2:c.673T>C (SGSH) XP_005257639.1:p.Phe225Leu
XM_005257583.3:c.673T>C (SGSH) XP_005257640.1:p.Phe225Leu
XM_011525126.1:c.673T>C (SGSH) XP_011523428.1:p.Phe225Leu
XM_011525127.1:c.673T>C (SGSH) XP_011523429.1:p.Phe225Leu
XR_934532.1:n.693T>C (SGSH)
NM_000199.4:c.673T>C (SGSH) NP_000190.1:p.Phe225Leu
NM_001352921.1:c.673T>C (SGSH) NP_001339850.1:p.Phe225Leu
NM_001352922.1:c.673T>C (SGSH) NP_001339851.1:p.Phe225Leu
NR_148201.1:n.654T>C (SGSH)
XM_005257583.4:c.673T>C (SGSH) XP_005257640.1:p.Phe225Leu
XM_017024952.1:c.673T>C (SGSH) XP_016880441.1:p.Phe225Leu
XR_001752585.1:n.693T>C (SGSH)
XR_001752586.1:n.693T>C (SGSH)
XR_001752587.1:n.693T>C (SGSH)
XR_001752588.1:n.693T>C (SGSH)
XR_001752589.1:n.693T>C (SGSH)
XR_001752590.1:n.693T>C (SGSH)
XR_001752591.1:n.693T>C (SGSH)
XR_001752592.1:n.693T>C (SGSH)
XR_002958057.1:n.693T>C (SGSH)
XR_934532.2:n.693T>C (SGSH)
NM_000199.5:c.673T>C (SGSH) MANE Select NP_000190.1:p.Phe225Leu
NM_001352921.2:c.673T>C (SGSH) NP_001339850.1:p.Phe225Leu
NM_001352922.2:c.673T>C (SGSH) NP_001339851.1:p.Phe225Leu
NR_148201.2:n.587T>C (SGSH)
NM_001352921.3:c.673T>C (SGSH) NP_001339850.1:p.Phe225Leu