Canonical Allele Identifier: CA2833073
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs781456258
ExAC: 4:4864512 T / C
gnomAD v2: 4-4864512-T-C
MyVariant Identifiers: chr4:g.4864512T>C (hg19) chr4:g.4862785T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862785T>C , CM000666.2:g.4862785T>C GRCh38
NC_000004.11:g.4864512T>C , CM000666.1:g.4864512T>C GRCh37
NC_000004.10:g.4915413T>C NCBI36
NG_008121.1:g.8121T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.554T>C MANE Select ENSP00000372170.4:p.Leu185Pro
ENST00000382723.4:c.554T>C ENSP00000372170.4:p.Leu185Pro
ENST00000468421.1:n.266T>C
NM_002448.3:c.554T>C MANE Select NP_002439.2:p.Leu185Pro
Search 100 bp 5'
Search 100 bp 3'