Canonical Allele Identifier: CA486768328
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 1013046
ClinVar RCV Id: RCV001311359 RCV001473846
dbSNP Id: rs771614823
gnomAD v3: 14-67725106-A-G
gnomAD v4: 14-67725106-A-G
MyVariant Identifiers: chr14:g.68191823A>G (hg19) chr14:g.67725106A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725106A>G , CM000676.2:g.67725106A>G GRCh38
NC_000014.8:g.68191823A>G , CM000676.1:g.68191823A>G GRCh37
NC_000014.7:g.67261576A>G NCBI36
NG_008321.1:g.28221A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.195A>G (RDH12) MANE Select ENSP00000449079.1:p.Arg65=
ENST00000267502.3:c.195A>G (RDH12) ENSP00000267502.3:p.Arg65=
ENST00000551171.5:c.195A>G (RDH12) ENSP00000449079.1:p.Arg65=
NM_152443.2:c.195A>G (RDH12) NP_689656.2:p.Arg65=
XM_017020925.2:c.1313-10089A>G (GPHN) XP_016876414.1:n.1313-10089A>G
NM_152443.3:c.195A>G (RDH12) MANE Select NP_689656.2:p.Arg65=
Search 100 bp 5'
Search 100 bp 3'