Canonical Allele Identifier: CA2122037950
Gene: OSGEP HGNC NCBI

Linked Data

dbSNP Id: rs1881232114
gnomAD v4: 14-20454821-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454821C>T , CM000676.2:g.20454821C>T GRCh38
NC_000014.8:g.20922980C>T , CM000676.1:g.20922980C>T GRCh37
NC_000014.7:g.19992820C>T NCBI36
NG_008718.1:g.4691C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-138G>A ENSP00000206542.4:n.-138G>A
ENST00000556252.1:n.233G>A
ENST00000556439.1:n.269G>A
NM_017807.3:c.-138G>A NP_060277.1:n.-138G>A
XM_011536930.1:c.-199G>A XP_011535232.1:n.-199G>A
XM_011536931.1:c.-434G>A XP_011535233.1:n.-434G>A
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