Canonical Allele Identifier: CA115315

Gene: RDH12 GPHN

Linked Data

• ClinVar Variation Id: 2061
• ClinVar RCV Id: RCV000002142 ; RCV000132691 ; RCV001073666 ; RCV001223788 ; RCV001558134 ; RCV003155010
• dbSNP Id: rs202126574
• ExAC: 14:68192801 C / T
• gnomAD v2: 14-68192801-C-T
• gnomAD v4: 14-67726084-C-T
• MyVariant Identifiers: chr14:g.68192801C>T (hg19) ; chr14:g.67726084C>T (hg38)
• PubMed: PMID:19140180

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67726084C>T , CM000676.2:g.67726084C>T	GRCh38
NC_000014.8:g.68192801C>T , CM000676.1:g.68192801C>T	GRCh37
NC_000014.7:g.67262554C>T	NCBI36
NG_008321.1:g.29199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.377C>T (RDH12) MANE Select	ENSP00000449079.1:p.Ala126Val
ENST00000267502.3:c.377C>T (RDH12)	ENSP00000267502.3:p.Ala126Val
ENST00000551171.5:c.377C>T (RDH12)	ENSP00000449079.1:p.Ala126Val
NM_152443.2:c.377C>T (RDH12)	NP_689656.2:p.Ala126Val
XM_017020925.2:c.1313-9111C>T (GPHN)	XP_016876414.1:n.1313-9111C>T
NM_152443.3:c.377C>T (RDH12) MANE Select	NP_689656.2:p.Ala126Val