Canonical Allele Identifier: CA356137395
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860114-A-G
MyVariant Identifiers: chr4:g.4861841A>G (hg19) chr4:g.4860114A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860114A>G , CM000666.2:g.4860114A>G GRCh38
NC_000004.11:g.4861841A>G , CM000666.1:g.4861841A>G GRCh37
NC_000004.10:g.4912742A>G NCBI36
NG_008121.1:g.5450A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.215A>G MANE Select ENSP00000372170.4:p.Lys72Arg
ENST00000382723.4:c.215A>G ENSP00000372170.4:p.Lys72Arg
NM_002448.3:c.215A>G MANE Select NP_002439.2:p.Lys72Arg
Search 100 bp 5'
Search 100 bp 3'