Canonical Allele Identifier: CA993163855
Gene: RETN HGNC NCBI
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

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