Canonical Allele Identifier: CA113871062
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs139472834
gnomAD v2: 5-10286545-C-A
gnomAD v3: 5-10286433-C-A
gnomAD v4: 5-10286433-C-A
MyVariant Identifiers: chr5:g.10286545C>A (hg19) chr5:g.10286433C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286433C>A , CM000667.2:g.10286433C>A GRCh38
NC_000005.9:g.10286545C>A , CM000667.1:g.10286545C>A GRCh37
NC_000005.8:g.10339545C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.387G>T MANE Select ENSP00000296658.3:p.Val129=
ENST00000296658.3:c.387G>T ENSP00000296658.3:p.Val129=
ENST00000506821.1:n.641G>T
ENST00000510532.5:n.455G>T
ENST00000511963.5:n.495G>T
NM_138809.3:c.387G>T NP_620164.1:p.Val129=
NM_138809.4:c.387G>T MANE Select NP_620164.1:p.Val129=
Search 100 bp 5'
Search 100 bp 3'