Canonical Allele Identifier: CA356139251

Gene: MSX1

Linked Data

• MyVariant Identifiers: chr4:g.4864863T>A (hg19) ; chr4:g.4863136T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4863136T>A , CM000666.2:g.4863136T>A	GRCh38
NC_000004.11:g.4864863T>A , CM000666.1:g.4864863T>A	GRCh37
NC_000004.10:g.4915764T>A	NCBI36
NG_008121.1:g.8472T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.905T>A MANE Select	ENSP00000372170.4:p.Leu302Gln
ENST00000382723.4:c.905T>A	ENSP00000372170.4:p.Leu302Gln
NM_002448.3:c.905T>A MANE Select	NP_002439.2:p.Leu302Gln