Canonical Allele Identifier: CA356137197
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860023-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860023G>A , CM000666.2:g.4860023G>A GRCh38
NC_000004.11:g.4861750G>A , CM000666.1:g.4861750G>A GRCh37
NC_000004.10:g.4912651G>A NCBI36
NG_008121.1:g.5359G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.124G>A MANE Select ENSP00000372170.4:p.Ala42Thr
ENST00000382723.4:c.124G>A ENSP00000372170.4:p.Ala42Thr
NM_002448.3:c.124G>A MANE Select NP_002439.2:p.Ala42Thr