Canonical Allele Identifier: CA1344396362

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733844G= , CM000665.2:g.8733844G= GRCh38
NC_000003.11:g.8775530G= , CM000665.1:g.8775530G= GRCh37
NC_000003.10:g.8750530G= NCBI36
NG_008797.2:g.5035G= , LRG_329:g.5035G=

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.-33G= (CAV3) MANE Select ENSP00000341940.2:n.-33G=
ENST00000343849.2:c.-33G= (CAV3) ENSP00000341940.2:n.-33G=
ENST00000435138.5:c.64+8615C= (SSUH2) ENSP00000412333.1:n.64+8615C=
ENST00000472766.1:n.9G= (CAV3)
ENST00000478513.1:n.335+8615C= (SSUH2)
NM_001234.4:c.-33G= (CAV3) NP_001225.1:n.-33G=
NM_033337.2:c.-33G= , LRG_329t1:c.-33G= (CAV3) NP_203123.1:n.-33G=
XR_940435.1:n.330+8615C= (SSUH2)
XM_017006530.1:c.-283+8615C= (SSUH2) XP_016862019.1:n.-283+8615C=
NM_001234.5:c.-33G= (CAV3) NP_001225.1:n.-33G=
NM_033337.3:c.-33G= (CAV3) MANE Select NP_203123.1:n.-33G=