Canonical Allele Identifier: CA252088

Gene: RDH12 GPHN

Linked Data

• ClinVar Variation Id: 2055
• ClinVar RCV Id: RCV000002136 ; RCV000594844 ; RCV000993758 ; RCV001075855 ; RCV001277202
• dbSNP Id: rs28940315
• ExAC: 14:68191923 C / A
• gnomAD v2: 14-68191923-C-A
• gnomAD v3: 14-67725206-C-A
• gnomAD v4: 14-67725206-C-A
• MyVariant Identifiers: chr14:g.68191923C>A (hg19) ; chr14:g.67725206C>A (hg38)
• PubMed: PMID:15322982 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67725206C>A , CM000676.2:g.67725206C>A	GRCh38
NC_000014.8:g.68191923C>A , CM000676.1:g.68191923C>A	GRCh37
NC_000014.7:g.67261676C>A	NCBI36
NG_008321.1:g.28321C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.295C>A (RDH12) MANE Select	ENSP00000449079.1:p.Leu99Ile
ENST00000267502.3:c.295C>A (RDH12)	ENSP00000267502.3:p.Leu99Ile
ENST00000551171.5:c.295C>A (RDH12)	ENSP00000449079.1:p.Leu99Ile
NM_152443.2:c.295C>A (RDH12)	NP_689656.2:p.Leu99Ile
XM_017020925.2:c.1313-9989C>A (GPHN)	XP_016876414.1:n.1313-9989C>A
NM_152443.3:c.295C>A (RDH12) MANE Select	NP_689656.2:p.Leu99Ile