Canonical Allele Identifier: CA3198611
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs770272540
ExAC: 5:10286527 T / C
gnomAD v2: 5-10286527-T-C
gnomAD v4: 5-10286415-T-C
MyVariant Identifiers: chr5:g.10286527T>C (hg19) chr5:g.10286415T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286415T>C , CM000667.2:g.10286415T>C GRCh38
NC_000005.9:g.10286527T>C , CM000667.1:g.10286527T>C GRCh37
NC_000005.8:g.10339527T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.405A>G MANE Select ENSP00000296658.3:p.Gly135=
ENST00000296658.3:c.405A>G ENSP00000296658.3:p.Gly135=
ENST00000506821.1:n.659A>G
ENST00000510532.5:n.473A>G
ENST00000511963.5:n.513A>G
NM_138809.3:c.405A>G NP_620164.1:p.Gly135=
NM_138809.4:c.405A>G MANE Select NP_620164.1:p.Gly135=
Search 100 bp 5'
Search 100 bp 3'