Canonical Allele Identifier: CA2832949
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs759548721
ExAC: 4:4861985 T / G
gnomAD v2: 4-4861985-T-G
gnomAD v3: 4-4860258-T-G
gnomAD v4: 4-4860258-T-G
MyVariant Identifiers: chr4:g.4861985T>G (hg19) chr4:g.4860258T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860258T>G , CM000666.2:g.4860258T>G GRCh38
NC_000004.11:g.4861985T>G , CM000666.1:g.4861985T>G GRCh37
NC_000004.10:g.4912886T>G NCBI36
NG_008121.1:g.5594T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.359T>G MANE Select ENSP00000372170.4:p.Val120Gly
ENST00000382723.4:c.359T>G ENSP00000372170.4:p.Val120Gly
NM_002448.3:c.359T>G MANE Select NP_002439.2:p.Val120Gly
Search 100 bp 5'
Search 100 bp 3'