Canonical Allele Identifier: CA359172580
Gene: CMBL HGNC NCBI

Linked Data

gnomAD v4: 5-10286401-T-G
MyVariant Identifiers: chr5:g.10286513T>G (hg19) chr5:g.10286401T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286401T>G , CM000667.2:g.10286401T>G GRCh38
NC_000005.9:g.10286513T>G , CM000667.1:g.10286513T>G GRCh37
NC_000005.8:g.10339513T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.419A>C MANE Select ENSP00000296658.3:p.His140Pro
ENST00000296658.3:c.419A>C ENSP00000296658.3:p.His140Pro
ENST00000506821.1:n.673A>C
ENST00000510532.5:n.487A>C
ENST00000511963.5:n.527A>C
NM_138809.3:c.419A>C NP_620164.1:p.His140Pro
NM_138809.4:c.419A>C MANE Select NP_620164.1:p.His140Pro
Search 100 bp 5'
Search 100 bp 3'