Canonical Allele Identifier: CA341584599

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064663T>G , CM000663.2:g.110064663T>G GRCh38
NC_000001.10:g.110607285T>G , CM000663.1:g.110607285T>G GRCh37
NC_000001.9:g.110408808T>G NCBI36
NG_012039.1:g.11038A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647563.2:c.518A>C (ALX3) MANE Select ENSP00000497310.1:p.Gln173Pro
ENST00000649954.1:c.89A>C (ALX3) ENSP00000497035.1:p.Gln30Pro
ENST00000369792.4:c.518A>C (ALX3) ENSP00000358807.3:p.Gln173Pro
ENST00000473429.5:n.4214-7792T>G (STRIP1)
NM_006492.2:c.518A>C (ALX3) NP_006483.2:p.Gln173Pro
NM_006492.3:c.518A>C (ALX3) MANE Select NP_006483.2:p.Gln173Pro