Canonical Allele Identifier: CA7238787

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• ClinVar Variation Id: 313841
• ClinVar RCV Id: RCV000302468 ; RCV000955105 ; RCV001111665 ; RCV001275436 ; RCV002520913
• dbSNP Id: rs769317754
• ExAC: 14:68195911 C / T
• gnomAD v2: 14-68195911-C-T
• gnomAD v3: 14-67729194-C-T
• gnomAD v4: 14-67729194-C-T
• MyVariant Identifiers: chr14:g.68195911C>T (hg19) ; chr14:g.67729194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729194C>T , CM000676.2:g.67729194C>T	GRCh38
NC_000014.8:g.68195911C>T , CM000676.1:g.68195911C>T	GRCh37
NC_000014.7:g.67265664C>T	NCBI36
NG_008321.1:g.32309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.662C>T (RDH12) MANE Select	ENSP00000449079.1:p.Thr221Ile
ENST00000267502.3:c.662C>T (RDH12)	ENSP00000267502.3:p.Thr221Ile
ENST00000394455.6:n.3288+17G>A (ZFYVE26)
ENST00000551171.5:c.662C>T (RDH12)	ENSP00000449079.1:p.Thr221Ile
ENST00000552873.1:n.31C>T (RDH12)
NM_152443.2:c.662C>T (RDH12)	NP_689656.2:p.Thr221Ile
XM_017020925.2:c.1313-6001C>T (GPHN)	XP_016876414.1:n.1313-6001C>T
XM_017021125.1:c.*548G>A (ZFYVE26)	XP_016876614.1:n.*548G>A
NM_152443.3:c.662C>T (RDH12) MANE Select	NP_689656.2:p.Thr221Ile