Canonical Allele Identifier: CA341584236

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064612G>A , CM000663.2:g.110064612G>A GRCh38
NC_000001.10:g.110607234G>A , CM000663.1:g.110607234G>A GRCh37
NC_000001.9:g.110408757G>A NCBI36
NG_012039.1:g.11089C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647563.2:c.569C>T (ALX3) MANE Select ENSP00000497310.1:p.Thr190Ile
ENST00000649954.1:c.140C>T (ALX3) ENSP00000497035.1:p.Thr47Ile
ENST00000369792.4:c.569C>T (ALX3) ENSP00000358807.3:p.Thr190Ile
ENST00000473429.5:n.4214-7843G>A (STRIP1)
NM_006492.2:c.569C>T (ALX3) NP_006483.2:p.Thr190Ile
NM_006492.3:c.569C>T (ALX3) MANE Select NP_006483.2:p.Thr190Ile