Canonical Allele Identifier: CA2832942
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs778451461
ExAC: 4:4861940 C / A
gnomAD v2: 4-4861940-C-A
gnomAD v3: 4-4860213-C-A
gnomAD v4: 4-4860213-C-A
MyVariant Identifiers: chr4:g.4861940C>A (hg19) chr4:g.4860213C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860213C>A , CM000666.2:g.4860213C>A GRCh38
NC_000004.11:g.4861940C>A , CM000666.1:g.4861940C>A GRCh37
NC_000004.10:g.4912841C>A NCBI36
NG_008121.1:g.5549C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.314C>A MANE Select ENSP00000372170.4:p.Ala105Asp
ENST00000382723.4:c.314C>A ENSP00000372170.4:p.Ala105Asp
NM_002448.3:c.314C>A MANE Select NP_002439.2:p.Ala105Asp
Search 100 bp 5'
Search 100 bp 3'