Canonical Allele Identifier: CA2833079
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs779236143
ExAC: 4:4864540 G / A
gnomAD v2: 4-4864540-G-A
MyVariant Identifiers: chr4:g.4864540G>A (hg19) chr4:g.4862813G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862813G>A , CM000666.2:g.4862813G>A GRCh38
NC_000004.11:g.4864540G>A , CM000666.1:g.4864540G>A GRCh37
NC_000004.10:g.4915441G>A NCBI36
NG_008121.1:g.8149G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.582G>A MANE Select ENSP00000372170.4:p.Lys194=
ENST00000382723.4:c.582G>A ENSP00000372170.4:p.Lys194=
ENST00000468421.1:n.294G>A
NM_002448.3:c.582G>A MANE Select NP_002439.2:p.Lys194=
Search 100 bp 5'
Search 100 bp 3'