Canonical Allele Identifier: CA2647013609

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064467C>T , CM000663.2:g.110064467C>T GRCh38
NC_000001.10:g.110607089C>T , CM000663.1:g.110607089C>T GRCh37
NC_000001.9:g.110408612C>T NCBI36
NG_012039.1:g.11234G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647563.2:c.594+120G>A (ALX3) MANE Select ENSP00000497310.1:n.594+120G>A
ENST00000649954.1:c.165+120G>A (ALX3) ENSP00000497035.1:n.165+120G>A
ENST00000369792.4:c.594+120G>A (ALX3) ENSP00000358807.3:n.594+120G>A
ENST00000473429.5:n.4214-7988C>T (STRIP1)
NM_006492.2:c.594+120G>A (ALX3) NP_006483.2:n.594+120G>A
NM_006492.3:c.594+120G>A (ALX3) MANE Select NP_006483.2:n.594+120G>A