Canonical Allele Identifier: CA341584101

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064592C>G , CM000663.2:g.110064592C>G GRCh38
NC_000001.10:g.110607214C>G , CM000663.1:g.110607214C>G GRCh37
NC_000001.9:g.110408737C>G NCBI36
NG_012039.1:g.11109G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647563.2:c.589G>C (ALX3) MANE Select ENSP00000497310.1:p.Val197Leu
ENST00000649954.1:c.160G>C (ALX3) ENSP00000497035.1:p.Val54Leu
ENST00000369792.4:c.589G>C (ALX3) ENSP00000358807.3:p.Val197Leu
ENST00000473429.5:n.4214-7863C>G (STRIP1)
NM_006492.2:c.589G>C (ALX3) NP_006483.2:p.Val197Leu
NM_006492.3:c.589G>C (ALX3) MANE Select NP_006483.2:p.Val197Leu