Canonical Allele Identifier: CA390152870

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• ClinVar Variation Id: 3028281
• ClinVar RCV Id: RCV003889651
• dbSNP Id: rs2038231752
• MyVariant Identifiers: chr14:g.68195917T>A (hg19) ; chr14:g.67729200T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729200T>A , CM000676.2:g.67729200T>A	GRCh38
NC_000014.8:g.68195917T>A , CM000676.1:g.68195917T>A	GRCh37
NC_000014.7:g.67265670T>A	NCBI36
NG_008321.1:g.32315T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.668T>A (RDH12) MANE Select	ENSP00000449079.1:p.Val223Asp
ENST00000267502.3:c.668T>A (RDH12)	ENSP00000267502.3:p.Val223Asp
ENST00000394455.6:n.3288+11A>T (ZFYVE26)
ENST00000551171.5:c.668T>A (RDH12)	ENSP00000449079.1:p.Val223Asp
ENST00000552873.1:n.37T>A (RDH12)
NM_152443.2:c.668T>A (RDH12)	NP_689656.2:p.Val223Asp
XM_017020925.2:c.1313-5995T>A (GPHN)	XP_016876414.1:n.1313-5995T>A
XM_017021125.1:c.*542A>T (ZFYVE26)	XP_016876614.1:n.*542A>T
NM_152443.3:c.668T>A (RDH12) MANE Select	NP_689656.2:p.Val223Asp