Canonical Allele Identifier: CA2669788690
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863258-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863258G>T , CM000666.2:g.4863258G>T GRCh38
NC_000004.11:g.4864985G>T , CM000666.1:g.4864985G>T GRCh37
NC_000004.10:g.4915886G>T NCBI36
NG_008121.1:g.8594G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*115G>T MANE Select ENSP00000372170.4:n.*115G>T
ENST00000382723.4:c.*115G>T ENSP00000372170.4:n.*115G>T
NM_002448.3:c.*115G>T MANE Select NP_002439.2:n.*115G>T