Canonical Allele Identifier: CA2580607743
Community Standard Title: NM_020415.4(RETN):c.*62G>T
Gene: RETN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7670411G>T , CM000681.2:g.7670411G>T GRCh38
NC_000019.9:g.7735297G>T , CM000681.1:g.7735297G>T GRCh37
NC_000019.8:g.7641297G>T NCBI36
NG_023447.1:g.6326G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020415.4:c.*62G>T MANE Select NP_065148.1:n.*62G>T
ENST00000221515.6:c.*62G>T MANE Select ENSP00000221515.1:n.*62G>T
NM_001193374.1:c.*62G>T NP_001180303.1:n.*62G>T
NM_001193374.2:c.*62G>T NP_001180303.1:n.*62G>T
NM_001385725.1:c.*62G>T NP_001372654.1:n.*62G>T
NM_001385726.1:c.*62G>T NP_001372655.1:n.*62G>T
NM_001385727.1:c.*62G>T NP_001372656.1:n.*62G>T
NM_020415.3:c.*62G>T NP_065148.1:n.*62G>T
ENST00000221515.5:c.*62G>T ENSP00000221515.1:n.*62G>T
ENST00000629642.1:c.*62G>T ENSP00000485998.1:n.*62G>T