Canonical Allele Identifier: CA2832975
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs756500556
ExAC: 4:4862069 G / A
gnomAD v2: 4-4862069-G-A
gnomAD v4: 4-4860342-G-A
MyVariant Identifiers: chr4:g.4862069G>A (hg19) chr4:g.4860342G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860342G>A , CM000666.2:g.4860342G>A GRCh38
NC_000004.11:g.4862069G>A , CM000666.1:g.4862069G>A GRCh37
NC_000004.10:g.4912970G>A NCBI36
NG_008121.1:g.5678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.443G>A MANE Select ENSP00000372170.4:p.Ser148Asn
ENST00000382723.4:c.443G>A ENSP00000372170.4:p.Ser148Asn
NM_002448.3:c.443G>A MANE Select NP_002439.2:p.Ser148Asn
Search 100 bp 5'
Search 100 bp 3'