Canonical Allele Identifier: CA2832972
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs774512352
ExAC: 4:4862064 G / T
gnomAD v2: 4-4862064-G-T
gnomAD v4: 4-4860337-G-T
MyVariant Identifiers: chr4:g.4862064G>T (hg19) chr4:g.4860337G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860337G>T , CM000666.2:g.4860337G>T GRCh38
NC_000004.11:g.4862064G>T , CM000666.1:g.4862064G>T GRCh37
NC_000004.10:g.4912965G>T NCBI36
NG_008121.1:g.5673G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.438G>T MANE Select ENSP00000372170.4:p.Met146Ile
ENST00000382723.4:c.438G>T ENSP00000372170.4:p.Met146Ile
NM_002448.3:c.438G>T MANE Select NP_002439.2:p.Met146Ile
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