Canonical Allele Identifier: CA2832968
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs369625915
ExAC: 4:4862053 A / T
gnomAD v2: 4-4862053-A-T
gnomAD v3: 4-4860326-A-T
gnomAD v4: 4-4860326-A-T
MyVariant Identifiers: chr4:g.4862053A>T (hg19) chr4:g.4860326A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860326A>T , CM000666.2:g.4860326A>T GRCh38
NC_000004.11:g.4862053A>T , CM000666.1:g.4862053A>T GRCh37
NC_000004.10:g.4912954A>T NCBI36
NG_008121.1:g.5662A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.427A>T MANE Select ENSP00000372170.4:p.Thr143Ser
ENST00000382723.4:c.427A>T ENSP00000372170.4:p.Thr143Ser
NM_002448.3:c.427A>T MANE Select NP_002439.2:p.Thr143Ser
Search 100 bp 5'
Search 100 bp 3'