Canonical Allele Identifier: CA252080

Gene: RDH12 GPHN

Linked Data

• ClinVar Variation Id: 2049
• ClinVar RCV Id: RCV000002130 ; RCV001091051 ; RCV001277201 ; RCV002267718
• dbSNP Id: rs28940314
• ExAC: 14:68191267 C / T
• gnomAD v2: 14-68191267-C-T
• gnomAD v3: 14-67724550-C-T
• gnomAD v4: 14-67724550-C-T
• MyVariant Identifiers: chr14:g.68191267C>T (hg19) ; chr14:g.67724550C>T (hg38)
• PubMed: PMID:15258582 ; PMID:16269441

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67724550C>T , CM000676.2:g.67724550C>T	GRCh38
NC_000014.8:g.68191267C>T , CM000676.1:g.68191267C>T	GRCh37
NC_000014.7:g.67261020C>T	NCBI36
NG_008321.1:g.27665C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.146C>T (RDH12) MANE Select	ENSP00000449079.1:p.Thr49Met
ENST00000267502.3:c.146C>T (RDH12)	ENSP00000267502.3:p.Thr49Met
ENST00000551171.5:c.146C>T (RDH12)	ENSP00000449079.1:p.Thr49Met
NM_152443.2:c.146C>T (RDH12)	NP_689656.2:p.Thr49Met
XM_017020925.2:c.1313-10645C>T (GPHN)	XP_016876414.1:n.1313-10645C>T
NM_152443.3:c.146C>T (RDH12) MANE Select	NP_689656.2:p.Thr49Met