Canonical Allele Identifier: CA7238660

Gene: RDH12 GPHN

Linked Data

• ClinVar Variation Id: 313837
• ClinVar RCV Id: RCV000381378 ; RCV001109345 ; RCV001850657 ; RCV003888726
• dbSNP Id: rs552516182
• ExAC: 14:68191911 C / T
• gnomAD v2: 14-68191911-C-T
• gnomAD v3: 14-67725194-C-T
• gnomAD v4: 14-67725194-C-T
• MyVariant Identifiers: chr14:g.68191911C>T (hg19) ; chr14:g.67725194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67725194C>T , CM000676.2:g.67725194C>T	GRCh38
NC_000014.8:g.68191911C>T , CM000676.1:g.68191911C>T	GRCh37
NC_000014.7:g.67261664C>T	NCBI36
NG_008321.1:g.28309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.283C>T (RDH12) MANE Select	ENSP00000449079.1:p.Arg95Trp
ENST00000267502.3:c.283C>T (RDH12)	ENSP00000267502.3:p.Arg95Trp
ENST00000551171.5:c.283C>T (RDH12)	ENSP00000449079.1:p.Arg95Trp
NM_152443.2:c.283C>T (RDH12)	NP_689656.2:p.Arg95Trp
XM_017020925.2:c.1313-10001C>T (GPHN)	XP_016876414.1:n.1313-10001C>T
NM_152443.3:c.283C>T (RDH12) MANE Select	NP_689656.2:p.Arg95Trp