Canonical Allele Identifier: CA380182192
Gene: ALX4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44275378C>G , CM000673.2:g.44275378C>G GRCh38
NC_000011.9:g.44296928C>G , CM000673.1:g.44296928C>G GRCh37
NC_000011.8:g.44253504C>G NCBI36
NG_015809.1:g.39789G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000652299.1:c.747G>C MANE Select ENSP00000498217.1:p.Met249Ile
ENST00000329255.3:c.747G>C ENSP00000332744.3:p.Met249Ile
NM_021926.3:c.747G>C NP_068745.2:p.Met249Ile
XM_011520264.1:c.747G>C XP_011518566.1:p.Met249Ile
XM_011520265.1:c.225G>C XP_011518567.1:p.Met75Ile
XM_011520266.1:c.225G>C XP_011518568.1:p.Met75Ile
NM_021926.4:c.747G>C MANE Select NP_068745.2:p.Met249Ile