Canonical Allele Identifier: CA2277864349

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80214684A= , CM000679.2:g.80214684A= GRCh38
NC_000017.10:g.78188483A= , CM000679.1:g.78188483A= GRCh37
NC_000017.9:g.75803078A= NCBI36
NG_008229.1:g.10717T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-1182A= (CARD14)
ENST00000326317.11:c.437T= (SGSH) MANE Select ENSP00000314606.6:p.Leu146=
ENST00000326317.10:c.437T= (SGSH) ENSP00000314606.6:p.Leu146=
ENST00000570427.1:c.455T= (SGSH) ENSP00000459765.1:p.Leu152=
ENST00000570923.1:c.472T= (SGSH) ENSP00000458200.1:p.Ser158=
ENST00000571051.5:n.375+349T= (SGSH)
ENST00000571675.5:n.457T= (SGSH)
ENST00000572208.5:n.373+349T= (SGSH)
ENST00000572257.5:c.39T= (SGSH)
ENST00000573150.5:c.331T= (SGSH) ENSP00000459280.1:p.Ser111=
ENST00000574505.5:c.301-5T= (SGSH)
ENST00000575282.5:n.446T= (SGSH)
ENST00000576707.5:c.176T= (SGSH) ENSP00000461128.1:p.Leu59=
ENST00000576941.5:c.250-356T= (SGSH) ENSP00000461160.1:n.250-356T=
NM_000199.3:c.437T= (SGSH) NP_000190.1:p.Leu146=
XM_005257582.2:c.437T= (SGSH) XP_005257639.1:p.Leu146=
XM_005257583.3:c.437T= (SGSH) XP_005257640.1:p.Leu146=
XM_011525126.1:c.437T= (SGSH) XP_011523428.1:p.Leu146=
XM_011525127.1:c.437T= (SGSH) XP_011523429.1:p.Leu146=
XR_934532.1:n.457T= (SGSH)
NM_000199.4:c.437T= (SGSH) NP_000190.1:p.Leu146=
NM_001352921.1:c.437T= (SGSH) NP_001339850.1:p.Leu146=
NM_001352922.1:c.437T= (SGSH) NP_001339851.1:p.Leu146=
NR_148201.1:n.418T= (SGSH)
XM_005257583.4:c.437T= (SGSH) XP_005257640.1:p.Leu146=
XM_017024952.1:c.437T= (SGSH) XP_016880441.1:p.Leu146=
XR_001752585.1:n.457T= (SGSH)
XR_001752586.1:n.457T= (SGSH)
XR_001752587.1:n.457T= (SGSH)
XR_001752588.1:n.457T= (SGSH)
XR_001752589.1:n.457T= (SGSH)
XR_001752590.1:n.457T= (SGSH)
XR_001752591.1:n.457T= (SGSH)
XR_001752592.1:n.457T= (SGSH)
XR_002958057.1:n.457T= (SGSH)
XR_934532.2:n.457T= (SGSH)
NM_000199.5:c.437T= (SGSH) MANE Select NP_000190.1:p.Leu146=
NM_001352921.2:c.437T= (SGSH) NP_001339850.1:p.Leu146=
NM_001352922.2:c.437T= (SGSH) NP_001339851.1:p.Leu146=
NR_148201.2:n.351T= (SGSH)
NM_001352921.3:c.437T= (SGSH) NP_001339850.1:p.Leu146=