Canonical Allele Identifier: CA401361123

Linked Data

ClinVar Variation Id: 2186029
ClinVar RCV Id: RCV002632645
dbSNP Id: rs1292460855

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213813T>C , CM000679.2:g.80213813T>C GRCh38
NC_000017.10:g.78187612T>C , CM000679.1:g.78187612T>C GRCh37
NC_000017.9:g.75802207T>C NCBI36
NG_008229.1:g.11588A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-2053T>C (CARD14)
ENST00000326317.11:c.736A>G (SGSH) MANE Select ENSP00000314606.6:p.Met246Val
ENST00000326317.10:c.736A>G (SGSH) ENSP00000314606.6:p.Met246Val
ENST00000570923.1:c.771A>G (SGSH) ENSP00000458200.1:p.Ala257=
ENST00000572257.5:c.338A>G (SGSH)
ENST00000573150.5:c.630A>G (SGSH) ENSP00000459280.1:p.Ala210=
ENST00000575282.5:n.1031A>G (SGSH)
ENST00000576941.5:c.*152A>G (SGSH) ENSP00000461160.1:n.*152A>G
NM_000199.3:c.736A>G (SGSH) NP_000190.1:p.Met246Val
XM_005257582.2:c.736A>G (SGSH) XP_005257639.1:p.Met246Val
XM_005257583.3:c.736A>G (SGSH) XP_005257640.1:p.Met246Val
XM_011525126.1:c.736A>G (SGSH) XP_011523428.1:p.Met246Val
XM_011525127.1:c.736A>G (SGSH) XP_011523429.1:p.Met246Val
XR_934532.1:n.756A>G (SGSH)
NM_000199.4:c.736A>G (SGSH) NP_000190.1:p.Met246Val
NM_001352921.1:c.736A>G (SGSH) NP_001339850.1:p.Met246Val
NM_001352922.1:c.736A>G (SGSH) NP_001339851.1:p.Met246Val
NR_148201.1:n.717A>G (SGSH)
XM_005257583.4:c.736A>G (SGSH) XP_005257640.1:p.Met246Val
XM_017024952.1:c.736A>G (SGSH) XP_016880441.1:p.Met246Val
XR_001752585.1:n.756A>G (SGSH)
XR_001752586.1:n.756A>G (SGSH)
XR_001752587.1:n.756A>G (SGSH)
XR_001752588.1:n.756A>G (SGSH)
XR_001752589.1:n.756A>G (SGSH)
XR_001752590.1:n.756A>G (SGSH)
XR_001752591.1:n.756A>G (SGSH)
XR_001752592.1:n.756A>G (SGSH)
XR_002958057.1:n.756A>G (SGSH)
XR_934532.2:n.756A>G (SGSH)
NM_000199.5:c.736A>G (SGSH) MANE Select NP_000190.1:p.Met246Val
NM_001352921.2:c.736A>G (SGSH) NP_001339850.1:p.Met246Val
NM_001352922.2:c.736A>G (SGSH) NP_001339851.1:p.Met246Val
NR_148201.2:n.650A>G (SGSH)
NM_001352921.3:c.736A>G (SGSH) NP_001339850.1:p.Met246Val