Canonical Allele Identifier: CA1058779126

Gene: MSX1

Linked Data

• dbSNP Id: rs1577536524
• gnomAD v3: 4-4862669-A-C
• gnomAD v4: 4-4862669-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862669A>C , CM000666.2:g.4862669A>C	GRCh38
NC_000004.11:g.4864396A>C , CM000666.1:g.4864396A>C	GRCh37
NC_000004.10:g.4915297A>C	NCBI36
NG_008121.1:g.8005A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382723.5:c.470-32A>C MANE Select	ENSP00000372170.4:n.470-32A>C
ENST00000382723.4:c.470-32A>C	ENSP00000372170.4:n.470-32A>C
ENST00000468421.1:n.182-32A>C
NM_002448.3:c.470-32A>C MANE Select	NP_002439.2:n.470-32A>C