Canonical Allele Identifier: CA356137327
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860084-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860084G>T , CM000666.2:g.4860084G>T GRCh38
NC_000004.11:g.4861811G>T , CM000666.1:g.4861811G>T GRCh37
NC_000004.10:g.4912712G>T NCBI36
NG_008121.1:g.5420G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.185G>T MANE Select ENSP00000372170.4:p.Ser62Ile
ENST00000382723.4:c.185G>T ENSP00000372170.4:p.Ser62Ile
NM_002448.3:c.185G>T MANE Select NP_002439.2:p.Ser62Ile