Canonical Allele Identifier: CA2833097
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs748508375
ExAC: 4:4864642 G / A
gnomAD v2: 4-4864642-G-A
MyVariant Identifiers: chr4:g.4864642G>A (hg19) chr4:g.4862915G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862915G>A , CM000666.2:g.4862915G>A GRCh38
NC_000004.11:g.4864642G>A , CM000666.1:g.4864642G>A GRCh37
NC_000004.10:g.4915543G>A NCBI36
NG_008121.1:g.8251G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.684G>A MANE Select ENSP00000372170.4:p.Lys228=
ENST00000382723.4:c.684G>A ENSP00000372170.4:p.Lys228=
ENST00000468421.1:n.396G>A
NM_002448.3:c.684G>A MANE Select NP_002439.2:p.Lys228=
Search 100 bp 5'
Search 100 bp 3'