Canonical Allele Identifier: CA438365860
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860256-G-C
MyVariant Identifiers: chr4:g.4861983G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860256G>C , CM000666.2:g.4860256G>C GRCh38
NC_000004.11:g.4861983G>C , CM000666.1:g.4861983G>C GRCh37
NC_000004.10:g.4912884G>C NCBI36
NG_008121.1:g.5592G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.357G>C MANE Select ENSP00000372170.4:p.Ser119=
ENST00000382723.4:c.357G>C ENSP00000372170.4:p.Ser119=
NM_002448.3:c.357G>C MANE Select NP_002439.2:p.Ser119=