Canonical Allele Identifier: CA549389228
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1273069047
gnomAD v2: 4-4864873-G-T
gnomAD v4: 4-4863146-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863146G>T , CM000666.2:g.4863146G>T GRCh38
NC_000004.11:g.4864873G>T , CM000666.1:g.4864873G>T GRCh37
NC_000004.10:g.4915774G>T NCBI36
NG_008121.1:g.8482G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*3G>T MANE Select ENSP00000372170.4:n.*3G>T
ENST00000382723.4:c.*3G>T ENSP00000372170.4:n.*3G>T
NM_002448.3:c.*3G>T MANE Select NP_002439.2:n.*3G>T