Canonical Allele Identifier: CA356137852
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860254T>G , CM000666.2:g.4860254T>G GRCh38
NC_000004.11:g.4861981T>G , CM000666.1:g.4861981T>G GRCh37
NC_000004.10:g.4912882T>G NCBI36
NG_008121.1:g.5590T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.355T>G MANE Select ENSP00000372170.4:p.Ser119Ala
ENST00000382723.4:c.355T>G ENSP00000372170.4:p.Ser119Ala
NM_002448.3:c.355T>G MANE Select NP_002439.2:p.Ser119Ala