Canonical Allele Identifier: CA356137818
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860245-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860245G>C , CM000666.2:g.4860245G>C GRCh38
NC_000004.11:g.4861972G>C , CM000666.1:g.4861972G>C GRCh37
NC_000004.10:g.4912873G>C NCBI36
NG_008121.1:g.5581G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.346G>C MANE Select ENSP00000372170.4:p.Gly116Arg
ENST00000382723.4:c.346G>C ENSP00000372170.4:p.Gly116Arg
NM_002448.3:c.346G>C MANE Select NP_002439.2:p.Gly116Arg