Canonical Allele Identifier: CA438366178
Gene: MSX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.4864606G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862879G>T , CM000666.2:g.4862879G>T GRCh38
NC_000004.11:g.4864606G>T , CM000666.1:g.4864606G>T GRCh37
NC_000004.10:g.4915507G>T NCBI36
NG_008121.1:g.8215G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.648G>T MANE Select ENSP00000372170.4:p.Val216=
ENST00000382723.4:c.648G>T ENSP00000372170.4:p.Val216=
ENST00000468421.1:n.360G>T
NM_002448.3:c.648G>T MANE Select NP_002439.2:p.Val216=