Canonical Allele Identifier: CA438365996
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4862777-G-C
MyVariant Identifiers: chr4:g.4864504G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862777G>C , CM000666.2:g.4862777G>C GRCh38
NC_000004.11:g.4864504G>C , CM000666.1:g.4864504G>C GRCh37
NC_000004.10:g.4915405G>C NCBI36
NG_008121.1:g.8113G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.546G>C MANE Select ENSP00000372170.4:p.Ala182=
ENST00000382723.4:c.546G>C ENSP00000372170.4:p.Ala182=
ENST00000468421.1:n.258G>C
NM_002448.3:c.546G>C MANE Select NP_002439.2:p.Ala182=
Search 100 bp 5'
Search 100 bp 3'