Canonical Allele Identifier: CA8817828

Linked Data

ClinVar Variation Id: 2142543
ClinVar RCV Id: RCV003051035
dbSNP Id: rs752632460

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213837C>T , CM000679.2:g.80213837C>T GRCh38
NC_000017.10:g.78187636C>T , CM000679.1:g.78187636C>T GRCh37
NC_000017.9:g.75802231C>T NCBI36
NG_008229.1:g.11564G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-2029C>T (CARD14)
ENST00000326317.11:c.712G>A (SGSH) MANE Select ENSP00000314606.6:p.Ala238Thr
ENST00000326317.10:c.712G>A (SGSH) ENSP00000314606.6:p.Ala238Thr
ENST00000570923.1:c.747G>A (SGSH) ENSP00000458200.1:p.Pro249=
ENST00000572208.5:n.579G>A (SGSH)
ENST00000572257.5:c.314G>A (SGSH)
ENST00000573150.5:c.606G>A (SGSH) ENSP00000459280.1:p.Pro202=
ENST00000574505.5:c.571G>A (SGSH)
ENST00000575282.5:n.1007G>A (SGSH)
ENST00000576941.5:c.*128G>A (SGSH) ENSP00000461160.1:n.*128G>A
NM_000199.3:c.712G>A (SGSH) NP_000190.1:p.Ala238Thr
XM_005257582.2:c.712G>A (SGSH) XP_005257639.1:p.Ala238Thr
XM_005257583.3:c.712G>A (SGSH) XP_005257640.1:p.Ala238Thr
XM_011525126.1:c.712G>A (SGSH) XP_011523428.1:p.Ala238Thr
XM_011525127.1:c.712G>A (SGSH) XP_011523429.1:p.Ala238Thr
XR_934532.1:n.732G>A (SGSH)
NM_000199.4:c.712G>A (SGSH) NP_000190.1:p.Ala238Thr
NM_001352921.1:c.712G>A (SGSH) NP_001339850.1:p.Ala238Thr
NM_001352922.1:c.712G>A (SGSH) NP_001339851.1:p.Ala238Thr
NR_148201.1:n.693G>A (SGSH)
XM_005257583.4:c.712G>A (SGSH) XP_005257640.1:p.Ala238Thr
XM_017024952.1:c.712G>A (SGSH) XP_016880441.1:p.Ala238Thr
XR_001752585.1:n.732G>A (SGSH)
XR_001752586.1:n.732G>A (SGSH)
XR_001752587.1:n.732G>A (SGSH)
XR_001752588.1:n.732G>A (SGSH)
XR_001752589.1:n.732G>A (SGSH)
XR_001752590.1:n.732G>A (SGSH)
XR_001752591.1:n.732G>A (SGSH)
XR_001752592.1:n.732G>A (SGSH)
XR_002958057.1:n.732G>A (SGSH)
XR_934532.2:n.732G>A (SGSH)
NM_000199.5:c.712G>A (SGSH) MANE Select NP_000190.1:p.Ala238Thr
NM_001352921.2:c.712G>A (SGSH) NP_001339850.1:p.Ala238Thr
NM_001352922.2:c.712G>A (SGSH) NP_001339851.1:p.Ala238Thr
NR_148201.2:n.626G>A (SGSH)
NM_001352921.3:c.712G>A (SGSH) NP_001339850.1:p.Ala238Thr