Canonical Allele Identifier: CA257404580
Gene: OSGEP HGNC NCBI

Linked Data

dbSNP Id: rs957511551
gnomAD v3: 14-20454825-G-C
gnomAD v4: 14-20454825-G-C
MyVariant Identifiers: chr14:g.20922984G>C (hg19) chr14:g.20454825G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454825G>C , CM000676.2:g.20454825G>C GRCh38
NC_000014.8:g.20922984G>C , CM000676.1:g.20922984G>C GRCh37
NC_000014.7:g.19992824G>C NCBI36
NG_008718.1:g.4695G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-142C>G ENSP00000206542.4:n.-142C>G
ENST00000556252.1:n.229C>G
ENST00000556439.1:n.265C>G
NM_017807.3:c.-142C>G NP_060277.1:n.-142C>G
XM_011536930.1:c.-203C>G XP_011535232.1:n.-203C>G
XM_011536931.1:c.-438C>G XP_011535233.1:n.-438C>G
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