Canonical Allele Identifier: CA356137974

Gene: MSX1

Linked Data

• dbSNP Id: rs1177012243
• gnomAD v2: 4-4862014-G-A
• gnomAD v4: 4-4860287-G-A
• MyVariant Identifiers: chr4:g.4862014G>A (hg19) ; chr4:g.4860287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860287G>A , CM000666.2:g.4860287G>A	GRCh38
NC_000004.11:g.4862014G>A , CM000666.1:g.4862014G>A	GRCh37
NC_000004.10:g.4912915G>A	NCBI36
NG_008121.1:g.5623G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.388G>A MANE Select	ENSP00000372170.4:p.Ala130Thr
ENST00000382723.4:c.388G>A	ENSP00000372170.4:p.Ala130Thr
NM_002448.3:c.388G>A MANE Select	NP_002439.2:p.Ala130Thr