Canonical Allele Identifier: CA356138767
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1313821191
gnomAD v2: 4-4864701-C-T
gnomAD v3: 4-4862974-C-T
gnomAD v4: 4-4862974-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862974C>T , CM000666.2:g.4862974C>T GRCh38
NC_000004.11:g.4864701C>T , CM000666.1:g.4864701C>T GRCh37
NC_000004.10:g.4915602C>T NCBI36
NG_008121.1:g.8310C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.743C>T MANE Select ENSP00000372170.4:p.Pro248Leu
ENST00000382723.4:c.743C>T ENSP00000372170.4:p.Pro248Leu
ENST00000468421.1:n.455C>T
NM_002448.3:c.743C>T MANE Select NP_002439.2:p.Pro248Leu