Canonical Allele Identifier: CA1058779155
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1737945295
gnomAD v3: 4-4862697-T-C
gnomAD v4: 4-4862697-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862697T>C , CM000666.2:g.4862697T>C GRCh38
NC_000004.11:g.4864424T>C , CM000666.1:g.4864424T>C GRCh37
NC_000004.10:g.4915325T>C NCBI36
NG_008121.1:g.8033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-4T>C MANE Select ENSP00000372170.4:n.470-4T>C
ENST00000382723.4:c.470-4T>C ENSP00000372170.4:n.470-4T>C
ENST00000468421.1:n.182-4T>C
NM_002448.3:c.470-4T>C MANE Select NP_002439.2:n.470-4T>C
Search 100 bp 5'
Search 100 bp 3'