Canonical Allele Identifier: CA9144402
Gene: RETN HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7669483C>T
GRCh37 chr19:g.7734369C>T
gnomAD v2:
19:7734369 C / T
gnomAD v3:
19:7669483 C / T
gnomAD v4:
chr19-7669483-C-T
Joint Max Group AF 0.34040621 (SAS)
Genomes Max Group AF 0.30712517 (SAS)
Exomes Max Group AF 0.34165027 (SAS)
dbSNP:
3219177
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7669483C>T , CM000681.2:g.7669483C>T GRCh38
NC_000019.9:g.7734369C>T , CM000681.1:g.7734369C>T GRCh37
NC_000019.8:g.7640369C>T NCBI36
NG_023447.1:g.5398C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221515.6:c.118+39C>T MANE Select ENSP00000221515.1:n.118+39C>T
ENST00000221515.5:c.118+39C>T ENSP00000221515.1:n.118+39C>T
ENST00000381324.2:c.118+39C>T ENSP00000370725.2:n.118+39C>T
ENST00000629642.1:c.118+39C>T ENSP00000485998.1:n.118+39C>T
NM_001193374.1:c.118+39C>T NP_001180303.1:n.118+39C>T
NM_020415.3:c.118+39C>T NP_065148.1:n.118+39C>T
NM_020415.4:c.118+39C>T MANE Select NP_065148.1:n.118+39C>T
NM_001193374.2:c.118+39C>T NP_001180303.1:n.118+39C>T
NM_001385725.1:c.118+39C>T NP_001372654.1:n.118+39C>T
NM_001385726.1:c.118+39C>T NP_001372655.1:n.118+39C>T
NM_001385727.1:c.118+39C>T NP_001372656.1:n.118+39C>T
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