Canonical Allele Identifier: CA356139210
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863118-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863118G>T , CM000666.2:g.4863118G>T GRCh38
NC_000004.11:g.4864845G>T , CM000666.1:g.4864845G>T GRCh37
NC_000004.10:g.4915746G>T NCBI36
NG_008121.1:g.8454G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.887G>T MANE Select ENSP00000372170.4:p.Gly296Val
ENST00000382723.4:c.887G>T ENSP00000372170.4:p.Gly296Val
NM_002448.3:c.887G>T MANE Select NP_002439.2:p.Gly296Val