Canonical Allele Identifier: CA356138040
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860306-G-T
MyVariant Identifiers: chr4:g.4862033G>T (hg19) chr4:g.4860306G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860306G>T , CM000666.2:g.4860306G>T GRCh38
NC_000004.11:g.4862033G>T , CM000666.1:g.4862033G>T GRCh37
NC_000004.10:g.4912934G>T NCBI36
NG_008121.1:g.5642G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.407G>T MANE Select ENSP00000372170.4:p.Ser136Ile
ENST00000382723.4:c.407G>T ENSP00000372170.4:p.Ser136Ile
NM_002448.3:c.407G>T MANE Select NP_002439.2:p.Ser136Ile
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