Canonical Allele Identifier: CA356138563
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4862884-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862884T>C , CM000666.2:g.4862884T>C GRCh38
NC_000004.11:g.4864611T>C , CM000666.1:g.4864611T>C GRCh37
NC_000004.10:g.4915512T>C NCBI36
NG_008121.1:g.8220T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.653T>C MANE Select ENSP00000372170.4:p.Ile218Thr
ENST00000382723.4:c.653T>C ENSP00000372170.4:p.Ile218Thr
ENST00000468421.1:n.365T>C
NM_002448.3:c.653T>C MANE Select NP_002439.2:p.Ile218Thr