Canonical Allele Identifier: CA486768882
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 1156781
ClinVar RCV Id: RCV001499570
dbSNP Id: rs2140145459
MyVariant Identifiers: chr14:g.68193816G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67727099G>A , CM000676.2:g.67727099G>A GRCh38
NC_000014.8:g.68193816G>A , CM000676.1:g.68193816G>A GRCh37
NC_000014.7:g.67263569G>A NCBI36
NG_008321.1:g.30214G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.567G>A (RDH12) MANE Select ENSP00000449079.1:p.Gln189=
ENST00000267502.3:c.567G>A (RDH12) ENSP00000267502.3:p.Gln189=
ENST00000551171.5:c.567G>A (RDH12) ENSP00000449079.1:p.Gln189=
NM_152443.2:c.567G>A (RDH12) NP_689656.2:p.Gln189=
XM_017020925.2:c.1313-8096G>A (GPHN) XP_016876414.1:n.1313-8096G>A
NM_152443.3:c.567G>A (RDH12) MANE Select NP_689656.2:p.Gln189=
Search 100 bp 5'
Search 100 bp 3'