Canonical Allele Identifier: CA2745014331

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064504A>C , CM000663.2:g.110064504A>C GRCh38
NC_000001.10:g.110607126A>C , CM000663.1:g.110607126A>C GRCh37
NC_000001.9:g.110408649A>C NCBI36
NG_012039.1:g.11197T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647563.2:c.594+83T>G (ALX3) MANE Select ENSP00000497310.1:n.594+83T>G
ENST00000649954.1:c.165+83T>G (ALX3) ENSP00000497035.1:n.165+83T>G
ENST00000369792.4:c.594+83T>G (ALX3) ENSP00000358807.3:n.594+83T>G
ENST00000473429.5:n.4214-7951A>C (STRIP1)
NM_006492.2:c.594+83T>G (ALX3) NP_006483.2:n.594+83T>G
NM_006492.3:c.594+83T>G (ALX3) MANE Select NP_006483.2:n.594+83T>G