Canonical Allele Identifier: CA252081

Gene: RDH12 GPHN

Linked Data

• ClinVar Variation Id: 2050
• ClinVar RCV Id: RCV000002131 ; RCV001075533 ; RCV001254729 ; RCV001567801
• dbSNP Id: rs104894471
• ExAC: 14:68191305 C / T
• gnomAD v2: 14-68191305-C-T
• gnomAD v3: 14-67724588-C-T
• gnomAD v4: 14-67724588-C-T
• MyVariant Identifiers: chr14:g.68191305C>T (hg19) ; chr14:g.67724588C>T (hg38)
• PubMed: PMID:15258582 ; PMID:15322982

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67724588C>T , CM000676.2:g.67724588C>T	GRCh38
NC_000014.8:g.68191305C>T , CM000676.1:g.68191305C>T	GRCh37
NC_000014.7:g.67261058C>T	NCBI36
NG_008321.1:g.27703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.184C>T (RDH12) MANE Select	ENSP00000449079.1:p.Arg62Ter
ENST00000267502.3:c.184C>T (RDH12)	ENSP00000267502.3:p.Arg62Ter
ENST00000551171.5:c.184C>T (RDH12)	ENSP00000449079.1:p.Arg62Ter
NM_152443.2:c.184C>T (RDH12)	NP_689656.2:p.Arg62Ter
XM_017020925.2:c.1313-10607C>T (GPHN)	XP_016876414.1:n.1313-10607C>T
NM_152443.3:c.184C>T (RDH12) MANE Select	NP_689656.2:p.Arg62Ter