Canonical Allele Identifier: CA1344396307

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733821A= , CM000665.2:g.8733821A= GRCh38
NC_000003.11:g.8775507A= , CM000665.1:g.8775507A= GRCh37
NC_000003.10:g.8750507A= NCBI36
NG_008797.2:g.5012A= , LRG_329:g.5012A=

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.-56A= (CAV3) MANE Select ENSP00000341940.2:n.-56A=
ENST00000343849.2:c.-56A= (CAV3) ENSP00000341940.2:n.-56A=
ENST00000435138.5:c.64+8638T= (SSUH2) ENSP00000412333.1:n.64+8638T=
ENST00000478513.1:n.335+8638T= (SSUH2)
NM_001234.4:c.-56A= (CAV3) NP_001225.1:n.-56A=
NM_033337.2:c.-56A= , LRG_329t1:c.-56A= (CAV3) NP_203123.1:n.-56A=
XR_940435.1:n.330+8638T= (SSUH2)
XM_017006530.1:c.-283+8638T= (SSUH2) XP_016862019.1:n.-283+8638T=
NM_001234.5:c.-56A= (CAV3) NP_001225.1:n.-56A=
NM_033337.3:c.-56A= (CAV3) MANE Select NP_203123.1:n.-56A=