Canonical Allele Identifier: CA356137470
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860151-G-C
MyVariant Identifiers: chr4:g.4861878G>C (hg19) chr4:g.4860151G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860151G>C , CM000666.2:g.4860151G>C GRCh38
NC_000004.11:g.4861878G>C , CM000666.1:g.4861878G>C GRCh37
NC_000004.10:g.4912779G>C NCBI36
NG_008121.1:g.5487G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.252G>C MANE Select ENSP00000372170.4:p.Glu84Asp
ENST00000382723.4:c.252G>C ENSP00000372170.4:p.Glu84Asp
NM_002448.3:c.252G>C MANE Select NP_002439.2:p.Glu84Asp
Search 100 bp 5'
Search 100 bp 3'