Canonical Allele Identifier: CA356138289
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862753G>T , CM000666.2:g.4862753G>T GRCh38
NC_000004.11:g.4864480G>T , CM000666.1:g.4864480G>T GRCh37
NC_000004.10:g.4915381G>T NCBI36
NG_008121.1:g.8089G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.522G>T MANE Select ENSP00000372170.4:p.Lys174Asn
ENST00000382723.4:c.522G>T ENSP00000372170.4:p.Lys174Asn
ENST00000468421.1:n.234G>T
NM_002448.3:c.522G>T MANE Select NP_002439.2:p.Lys174Asn