Canonical Allele Identifier: CA438365998
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4862777-G-T
MyVariant Identifiers: chr4:g.4864504G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862777G>T , CM000666.2:g.4862777G>T GRCh38
NC_000004.11:g.4864504G>T , CM000666.1:g.4864504G>T GRCh37
NC_000004.10:g.4915405G>T NCBI36
NG_008121.1:g.8113G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.546G>T MANE Select ENSP00000372170.4:p.Ala182=
ENST00000382723.4:c.546G>T ENSP00000372170.4:p.Ala182=
ENST00000468421.1:n.258G>T
NM_002448.3:c.546G>T MANE Select NP_002439.2:p.Ala182=