Canonical Allele Identifier: CA356138770
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862976G>T , CM000666.2:g.4862976G>T GRCh38
NC_000004.11:g.4864703G>T , CM000666.1:g.4864703G>T GRCh37
NC_000004.10:g.4915604G>T NCBI36
NG_008121.1:g.8312G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.745G>T MANE Select ENSP00000372170.4:p.Ala249Ser
ENST00000382723.4:c.745G>T ENSP00000372170.4:p.Ala249Ser
ENST00000468421.1:n.457G>T
NM_002448.3:c.745G>T MANE Select NP_002439.2:p.Ala249Ser