Canonical Allele Identifier: CA356137946

Gene: MSX1

Linked Data

• gnomAD v4: 4-4860281-G-A
• MyVariant Identifiers: chr4:g.4862008G>A (hg19) ; chr4:g.4860281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860281G>A , CM000666.2:g.4860281G>A	GRCh38
NC_000004.11:g.4862008G>A , CM000666.1:g.4862008G>A	GRCh37
NC_000004.10:g.4912909G>A	NCBI36
NG_008121.1:g.5617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.382G>A MANE Select	ENSP00000372170.4:p.Glu128Lys
ENST00000382723.4:c.382G>A	ENSP00000372170.4:p.Glu128Lys
NM_002448.3:c.382G>A MANE Select	NP_002439.2:p.Glu128Lys