Canonical Allele Identifier: CA2647013636

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064475A>G , CM000663.2:g.110064475A>G GRCh38
NC_000001.10:g.110607097A>G , CM000663.1:g.110607097A>G GRCh37
NC_000001.9:g.110408620A>G NCBI36
NG_012039.1:g.11226T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647563.2:c.594+112T>C (ALX3) MANE Select ENSP00000497310.1:n.594+112T>C
ENST00000649954.1:c.165+112T>C (ALX3) ENSP00000497035.1:n.165+112T>C
ENST00000369792.4:c.594+112T>C (ALX3) ENSP00000358807.3:n.594+112T>C
ENST00000473429.5:n.4214-7980A>G (STRIP1)
NM_006492.2:c.594+112T>C (ALX3) NP_006483.2:n.594+112T>C
NM_006492.3:c.594+112T>C (ALX3) MANE Select NP_006483.2:n.594+112T>C