Canonical Allele Identifier: CA252092

Gene: RDH12 GPHN

Linked Data

• ClinVar Variation Id: 2059
• ClinVar RCV Id: RCV000002140 ; RCV001091055 ; RCV001826405 ; RCV002287317 ; RCV003324481
• dbSNP Id: rs121434337
• ExAC: 14:68193713 C / T
• gnomAD v2: 14-68193713-C-T
• gnomAD v3: 14-67726996-C-T
• gnomAD v4: 14-67726996-C-T
• MyVariant Identifiers: chr14:g.68193713C>T (hg19) ; chr14:g.67726996C>T (hg38)
• PubMed: PMID:16269441

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67726996C>T , CM000676.2:g.67726996C>T	GRCh38
NC_000014.8:g.68193713C>T , CM000676.1:g.68193713C>T	GRCh37
NC_000014.7:g.67263466C>T	NCBI36
NG_008321.1:g.30111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.464C>T (RDH12) MANE Select	ENSP00000449079.1:p.Thr155Ile
ENST00000267502.3:c.464C>T (RDH12)	ENSP00000267502.3:p.Thr155Ile
ENST00000551171.5:c.464C>T (RDH12)	ENSP00000449079.1:p.Thr155Ile
NM_152443.2:c.464C>T (RDH12)	NP_689656.2:p.Thr155Ile
XM_017020925.2:c.1313-8199C>T (GPHN)	XP_016876414.1:n.1313-8199C>T
NM_152443.3:c.464C>T (RDH12) MANE Select	NP_689656.2:p.Thr155Ile