Canonical Allele Identifier: CA356137961

Gene: MSX1

Linked Data

• MyVariant Identifiers: chr4:g.4862011G>C (hg19) ; chr4:g.4860284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860284G>C , CM000666.2:g.4860284G>C	GRCh38
NC_000004.11:g.4862011G>C , CM000666.1:g.4862011G>C	GRCh37
NC_000004.10:g.4912912G>C	NCBI36
NG_008121.1:g.5620G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.385G>C MANE Select	ENSP00000372170.4:p.Asp129His
ENST00000382723.4:c.385G>C	ENSP00000372170.4:p.Asp129His
NM_002448.3:c.385G>C MANE Select	NP_002439.2:p.Asp129His