Canonical Allele Identifier: CA356137370
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860104-G-C
MyVariant Identifiers: chr4:g.4861831G>C (hg19) chr4:g.4860104G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860104G>C , CM000666.2:g.4860104G>C GRCh38
NC_000004.11:g.4861831G>C , CM000666.1:g.4861831G>C GRCh37
NC_000004.10:g.4912732G>C NCBI36
NG_008121.1:g.5440G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.205G>C MANE Select ENSP00000372170.4:p.Asp69His
ENST00000382723.4:c.205G>C ENSP00000372170.4:p.Asp69His
NM_002448.3:c.205G>C MANE Select NP_002439.2:p.Asp69His
Search 100 bp 5'
Search 100 bp 3'