Canonical Allele Identifier: CA2144004311

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• ClinVar Variation Id: 2957692
• ClinVar RCV Id: RCV003811355
• dbSNP Id: rs1594867388

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729177C>T , CM000676.2:g.67729177C>T	GRCh38
NC_000014.8:g.68195894C>T , CM000676.1:g.68195894C>T	GRCh37
NC_000014.7:g.67265647C>T	NCBI36
NG_008321.1:g.32292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.659-14C>T (RDH12) MANE Select	ENSP00000449079.1:n.659-14C>T
ENST00000267502.3:c.659-14C>T (RDH12)	ENSP00000267502.3:n.659-14C>T
ENST00000394455.6:n.3288+34G>A (ZFYVE26)
ENST00000551171.5:c.659-14C>T (RDH12)	ENSP00000449079.1:n.659-14C>T
ENST00000552873.1:n.28-14C>T (RDH12)
NM_152443.2:c.659-14C>T (RDH12)	NP_689656.2:n.659-14C>T
XM_017020925.2:c.1313-6018C>T (GPHN)	XP_016876414.1:n.1313-6018C>T
XM_017021125.1:c.*565G>A (ZFYVE26)	XP_016876614.1:n.*565G>A
NM_152443.3:c.659-14C>T (RDH12) MANE Select	NP_689656.2:n.659-14C>T