Canonical Allele Identifier: CA401361281

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213835A>C , CM000679.2:g.80213835A>C GRCh38
NC_000017.10:g.78187634A>C , CM000679.1:g.78187634A>C GRCh37
NC_000017.9:g.75802229A>C NCBI36
NG_008229.1:g.11566T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-2031A>C (CARD14)
ENST00000326317.11:c.714T>G (SGSH) MANE Select ENSP00000314606.6:p.Ala238=
ENST00000326317.10:c.714T>G (SGSH) ENSP00000314606.6:p.Ala238=
ENST00000570923.1:c.749T>G (SGSH) ENSP00000458200.1:p.Leu250Arg
ENST00000572208.5:n.581T>G (SGSH)
ENST00000572257.5:c.316T>G (SGSH)
ENST00000573150.5:c.608T>G (SGSH) ENSP00000459280.1:p.Leu203Arg
ENST00000574505.5:c.573T>G (SGSH)
ENST00000575282.5:n.1009T>G (SGSH)
ENST00000576941.5:c.*130T>G (SGSH) ENSP00000461160.1:n.*130T>G
NM_000199.3:c.714T>G (SGSH) NP_000190.1:p.Ala238=
XM_005257582.2:c.714T>G (SGSH) XP_005257639.1:p.Ala238=
XM_005257583.3:c.714T>G (SGSH) XP_005257640.1:p.Ala238=
XM_011525126.1:c.714T>G (SGSH) XP_011523428.1:p.Ala238=
XM_011525127.1:c.714T>G (SGSH) XP_011523429.1:p.Ala238=
XR_934532.1:n.734T>G (SGSH)
NM_000199.4:c.714T>G (SGSH) NP_000190.1:p.Ala238=
NM_001352921.1:c.714T>G (SGSH) NP_001339850.1:p.Ala238=
NM_001352922.1:c.714T>G (SGSH) NP_001339851.1:p.Ala238=
NR_148201.1:n.695T>G (SGSH)
XM_005257583.4:c.714T>G (SGSH) XP_005257640.1:p.Ala238=
XM_017024952.1:c.714T>G (SGSH) XP_016880441.1:p.Ala238=
XR_001752585.1:n.734T>G (SGSH)
XR_001752586.1:n.734T>G (SGSH)
XR_001752587.1:n.734T>G (SGSH)
XR_001752588.1:n.734T>G (SGSH)
XR_001752589.1:n.734T>G (SGSH)
XR_001752590.1:n.734T>G (SGSH)
XR_001752591.1:n.734T>G (SGSH)
XR_001752592.1:n.734T>G (SGSH)
XR_002958057.1:n.734T>G (SGSH)
XR_934532.2:n.734T>G (SGSH)
NM_000199.5:c.714T>G (SGSH) MANE Select NP_000190.1:p.Ala238=
NM_001352921.2:c.714T>G (SGSH) NP_001339850.1:p.Ala238=
NM_001352922.2:c.714T>G (SGSH) NP_001339851.1:p.Ala238=
NR_148201.2:n.628T>G (SGSH)
NM_001352921.3:c.714T>G (SGSH) NP_001339850.1:p.Ala238=