Canonical Allele Identifier: CA356137266
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1048451887
gnomAD v2: 4-4861783-A-C
gnomAD v4: 4-4860056-A-C
MyVariant Identifiers: chr4:g.4861783A>C (hg19) chr4:g.4860056A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860056A>C , CM000666.2:g.4860056A>C GRCh38
NC_000004.11:g.4861783A>C , CM000666.1:g.4861783A>C GRCh37
NC_000004.10:g.4912684A>C NCBI36
NG_008121.1:g.5392A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.157A>C MANE Select ENSP00000372170.4:p.Lys53Gln
ENST00000382723.4:c.157A>C ENSP00000372170.4:p.Lys53Gln
NM_002448.3:c.157A>C MANE Select NP_002439.2:p.Lys53Gln
Search 100 bp 5'
Search 100 bp 3'