Canonical Allele Identifier: CA356138210
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4862715-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862715C>T , CM000666.2:g.4862715C>T GRCh38
NC_000004.11:g.4864442C>T , CM000666.1:g.4864442C>T GRCh37
NC_000004.10:g.4915343C>T NCBI36
NG_008121.1:g.8051C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.484C>T MANE Select ENSP00000372170.4:p.Pro162Ser
ENST00000382723.4:c.484C>T ENSP00000372170.4:p.Pro162Ser
ENST00000468421.1:n.196C>T
NM_002448.3:c.484C>T MANE Select NP_002439.2:p.Pro162Ser