Canonical Allele Identifier: CA438365453
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1407889743
gnomAD v2: 4-4861761-G-A
gnomAD v4: 4-4860034-G-A
MyVariant Identifiers: chr4:g.4861761G>A (hg19) chr4:g.4860034G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860034G>A , CM000666.2:g.4860034G>A GRCh38
NC_000004.11:g.4861761G>A , CM000666.1:g.4861761G>A GRCh37
NC_000004.10:g.4912662G>A NCBI36
NG_008121.1:g.5370G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.135G>A MANE Select ENSP00000372170.4:p.Ala45=
ENST00000382723.4:c.135G>A ENSP00000372170.4:p.Ala45=
NM_002448.3:c.135G>A MANE Select NP_002439.2:p.Ala45=
Search 100 bp 5'
Search 100 bp 3'