Canonical Allele Identifier: CA401361115

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213811C>T , CM000679.2:g.80213811C>T GRCh38
NC_000017.10:g.78187610C>T , CM000679.1:g.78187610C>T GRCh37
NC_000017.9:g.75802205C>T NCBI36
NG_008229.1:g.11590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-2055C>T (CARD14)
ENST00000326317.11:c.738G>A (SGSH) MANE Select ENSP00000314606.6:p.Met246Ile
ENST00000326317.10:c.738G>A (SGSH) ENSP00000314606.6:p.Met246Ile
ENST00000570923.1:c.773G>A (SGSH) ENSP00000458200.1:p.Trp258Ter
ENST00000572257.5:c.340G>A (SGSH)
ENST00000573150.5:c.632G>A (SGSH) ENSP00000459280.1:p.Trp211Ter
ENST00000575282.5:n.1033G>A (SGSH)
ENST00000576941.5:c.*154G>A (SGSH) ENSP00000461160.1:n.*154G>A
NM_000199.3:c.738G>A (SGSH) NP_000190.1:p.Met246Ile
XM_005257582.2:c.738G>A (SGSH) XP_005257639.1:p.Met246Ile
XM_005257583.3:c.738G>A (SGSH) XP_005257640.1:p.Met246Ile
XM_011525126.1:c.738G>A (SGSH) XP_011523428.1:p.Met246Ile
XM_011525127.1:c.738G>A (SGSH) XP_011523429.1:p.Met246Ile
XR_934532.1:n.758G>A (SGSH)
NM_000199.4:c.738G>A (SGSH) NP_000190.1:p.Met246Ile
NM_001352921.1:c.738G>A (SGSH) NP_001339850.1:p.Met246Ile
NM_001352922.1:c.738G>A (SGSH) NP_001339851.1:p.Met246Ile
NR_148201.1:n.719G>A (SGSH)
XM_005257583.4:c.738G>A (SGSH) XP_005257640.1:p.Met246Ile
XM_017024952.1:c.738G>A (SGSH) XP_016880441.1:p.Met246Ile
XR_001752585.1:n.758G>A (SGSH)
XR_001752586.1:n.758G>A (SGSH)
XR_001752587.1:n.758G>A (SGSH)
XR_001752588.1:n.758G>A (SGSH)
XR_001752589.1:n.758G>A (SGSH)
XR_001752590.1:n.758G>A (SGSH)
XR_001752591.1:n.758G>A (SGSH)
XR_001752592.1:n.758G>A (SGSH)
XR_002958057.1:n.758G>A (SGSH)
XR_934532.2:n.758G>A (SGSH)
NM_000199.5:c.738G>A (SGSH) MANE Select NP_000190.1:p.Met246Ile
NM_001352921.2:c.738G>A (SGSH) NP_001339850.1:p.Met246Ile
NM_001352922.2:c.738G>A (SGSH) NP_001339851.1:p.Met246Ile
NR_148201.2:n.652G>A (SGSH)
NM_001352921.3:c.738G>A (SGSH) NP_001339850.1:p.Met246Ile