Canonical Allele Identifier: CA351661557

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733971T>G , CM000665.2:g.8733971T>G GRCh38
NC_000003.11:g.8775657T>G , CM000665.1:g.8775657T>G GRCh37
NC_000003.10:g.8750657T>G NCBI36
NG_008797.2:g.5162T>G , LRG_329:g.5162T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.95T>G (CAV3) MANE Select ENSP00000341940.2:p.Ile32Ser
ENST00000343849.2:c.95T>G (CAV3) ENSP00000341940.2:p.Ile32Ser
ENST00000397368.2:c.95T>G (CAV3) ENSP00000380525.2:p.Ile32Ser
ENST00000435138.5:c.64+8488A>C (SSUH2) ENSP00000412333.1:n.64+8488A>C
ENST00000472766.1:n.136T>G (CAV3)
ENST00000478513.1:n.335+8488A>C (SSUH2)
NM_001234.4:c.95T>G (CAV3) NP_001225.1:p.Ile32Ser
NM_033337.2:c.95T>G , LRG_329t1:c.95T>G (CAV3) NP_203123.1:p.Ile32Ser
XR_940435.1:n.330+8488A>C (SSUH2)
XM_017006530.1:c.-283+8488A>C (SSUH2) XP_016862019.1:n.-283+8488A>C
NM_001234.5:c.95T>G (CAV3) NP_001225.1:p.Ile32Ser
NM_033337.3:c.95T>G (CAV3) MANE Select NP_203123.1:p.Ile32Ser