Canonical Allele Identifier: CA2833052
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225414
dbSNP Id: rs150284621
gnomAD v2: 4-4864429-G-T
gnomAD v3: 4-4862702-G-T
gnomAD v4: 4-4862702-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862702G>T , CM000666.2:g.4862702G>T GRCh38
NC_000004.11:g.4864429G>T , CM000666.1:g.4864429G>T GRCh37
NC_000004.10:g.4915330G>T NCBI36
NG_008121.1:g.8038G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.471G>T MANE Select ENSP00000372170.4:p.Arg157Ser
ENST00000382723.4:c.471G>T ENSP00000372170.4:p.Arg157Ser
ENST00000468421.1:n.183G>T
NM_002448.3:c.471G>T MANE Select NP_002439.2:p.Arg157Ser