Canonical Allele Identifier: CA341584211

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064608G>T , CM000663.2:g.110064608G>T GRCh38
NC_000001.10:g.110607230G>T , CM000663.1:g.110607230G>T GRCh37
NC_000001.9:g.110408753G>T NCBI36
NG_012039.1:g.11093C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647563.2:c.573C>A (ALX3) MANE Select ENSP00000497310.1:p.Asp191Glu
ENST00000649954.1:c.144C>A (ALX3) ENSP00000497035.1:p.Asp48Glu
ENST00000369792.4:c.573C>A (ALX3) ENSP00000358807.3:p.Asp191Glu
ENST00000473429.5:n.4214-7847G>T (STRIP1)
NM_006492.2:c.573C>A (ALX3) NP_006483.2:p.Asp191Glu
NM_006492.3:c.573C>A (ALX3) MANE Select NP_006483.2:p.Asp191Glu