Canonical Allele Identifier: CA69861907

Linked Data

dbSNP Id: rs116840786

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733962C>A , CM000665.2:g.8733962C>A GRCh38
NC_000003.11:g.8775648C>A , CM000665.1:g.8775648C>A GRCh37
NC_000003.10:g.8750648C>A NCBI36
NG_008797.2:g.5153C>A , LRG_329:g.5153C>A

Transcript Alleles

HGVS Amino-acid change
NM_001234.4:c.86C>A (CAV3) NP_001225.1:p.Pro29His
NM_033337.2:c.86C>A , LRG_329t1:c.86C>A (CAV3) NP_203123.1:p.Pro29His
XR_940435.1:n.330+8497G>T (SSUH2)
XM_017006530.1:c.-283+8497G>T (SSUH2) XP_016862019.1:p.=
NM_001234.5:c.86C>A (CAV3) NP_001225.1:p.Pro29His
NM_033337.3:c.86C>A (CAV3) NP_203123.1:p.Pro29His
ENST00000343849.2:c.86C>A ENSP00000341940.2:p.Pro29His
ENST00000397368.2:c.86C>A ENSP00000380525.2:p.Pro29His
ENST00000435138.5:c.64+8497G>T ENSP00000412333.1:p.=
ENST00000472766.1:n.127C>A
ENST00000478513.1:n.335+8497G>T