Canonical Allele Identifier: CA252083

Identifiers and link-outs to other resources

ClinVar Variation Id: 2051
ClinVar RCV Id: RCV000002132
dbSNP Id: rs104894474

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67726086G>T , CM000676.2:g.67726086G>T GRCh38
NC_000014.8:g.68192803G>T , CM000676.1:g.68192803G>T GRCh37
NC_000014.7:g.67262556G>T NCBI36
NG_008321.1:g.29201G>T

Transcript Alleles

HGVS Amino-acid change
NM_152443.2:c.379G>T (RDH12) VV NP_689656.2:p.Gly127Ter
XM_017020925.2:c.1313-9109G>T (GPHN) XP_016876414.1:p.=
ENST00000267502.3:c.379G>T ENSP00000267502.3:p.Gly127Ter
ENST00000551171.5:c.379G>T ENSP00000449079.1:p.Gly127Ter