Canonical Allele Identifier: CA356138438
Gene: MSX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.4864553A>C (hg19) chr4:g.4862826A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862826A>C , CM000666.2:g.4862826A>C GRCh38
NC_000004.11:g.4864553A>C , CM000666.1:g.4864553A>C GRCh37
NC_000004.10:g.4915454A>C NCBI36
NG_008121.1:g.8162A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.595A>C MANE Select ENSP00000372170.4:p.Ile199Leu
ENST00000382723.4:c.595A>C ENSP00000372170.4:p.Ile199Leu
ENST00000468421.1:n.307A>C
NM_002448.3:c.595A>C MANE Select NP_002439.2:p.Ile199Leu
Search 100 bp 5'
Search 100 bp 3'