Canonical Allele Identifier: CA246260

Gene: RDH12 GPHN

Linked Data

• ClinVar Variation Id: 197876
• ClinVar RCV Id: RCV000179017 ; RCV001109344 ; RCV001430505
• dbSNP Id: rs771614823
• ExAC: 14:68191823 A / C
• gnomAD v2: 14-68191823-A-C
• gnomAD v3: 14-67725106-A-C
• gnomAD v4: 14-67725106-A-C
• MyVariant Identifiers: chr14:g.68191823A>C (hg19) ; chr14:g.67725106A>C (hg38)

Genomic Alleles

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

Transcript Alleles

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