Canonical Allele Identifier: CA438366158
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1435101199
gnomAD v2: 4-4864567-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862840G>T , CM000666.2:g.4862840G>T GRCh38
NC_000004.11:g.4864567G>T , CM000666.1:g.4864567G>T GRCh37
NC_000004.10:g.4915468G>T NCBI36
NG_008121.1:g.8176G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.609G>T MANE Select ENSP00000372170.4:p.Ala203=
ENST00000382723.4:c.609G>T ENSP00000372170.4:p.Ala203=
ENST00000468421.1:n.321G>T
NM_002448.3:c.609G>T MANE Select NP_002439.2:p.Ala203=