Canonical Allele Identifier: CA300118235
Gene: MEX3C HGNC NCBI

Linked Data

dbSNP Id: rs953474872
gnomAD v2: 18-48718438-C-T
gnomAD v3: 18-51192068-C-T
gnomAD v4: 18-51192068-C-T
MyVariant Identifiers: chr18:g.48718438C>T (hg19) chr18:g.51192068C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51192068C>T , CM000680.2:g.51192068C>T GRCh38
NC_000018.9:g.48718438C>T , CM000680.1:g.48718438C>T GRCh37
NC_000018.8:g.46972436C>T NCBI36
NG_015801.1:g.10614G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406189.4:c.754+4499G>A MANE Select ENSP00000385610.3:n.754+4499G>A
ENST00000591040.2:c.-107-14492G>A ENSP00000502049.1:n.-107-14492G>A
ENST00000406189.3:c.754+4499G>A ENSP00000385610.3:n.754+4499G>A
ENST00000591040.1:n.44-14492G>A
ENST00000616921.1:c.244+4499G>A ENSP00000482566.1:n.244+4499G>A
NM_016626.4:c.754+4499G>A NP_057710.3:n.754+4499G>A
NM_016626.5:c.754+4499G>A MANE Select NP_057710.3:n.754+4499G>A
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