Canonical Allele Identifier: CA390152915

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• gnomAD v4: 14-67729223-G-T
• MyVariant Identifiers: chr14:g.68195940G>T (hg19) ; chr14:g.67729223G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729223G>T , CM000676.2:g.67729223G>T	GRCh38
NC_000014.8:g.68195940G>T , CM000676.1:g.68195940G>T	GRCh37
NC_000014.7:g.67265693G>T	NCBI36
NG_008321.1:g.32338G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.691G>T (RDH12) MANE Select	ENSP00000449079.1:p.Gly231Cys
ENST00000267502.3:c.691G>T (RDH12)	ENSP00000267502.3:p.Gly231Cys
ENST00000394455.6:n.3276C>A (ZFYVE26)
ENST00000551171.5:c.691G>T (RDH12)	ENSP00000449079.1:p.Gly231Cys
ENST00000552873.1:n.60G>T (RDH12)
NM_152443.2:c.691G>T (RDH12)	NP_689656.2:p.Gly231Cys
XM_017020925.2:c.1313-5972G>T (GPHN)	XP_016876414.1:n.1313-5972G>T
XM_017021125.1:c.*519C>A (ZFYVE26)	XP_016876614.1:n.*519C>A
NM_152443.3:c.691G>T (RDH12) MANE Select	NP_689656.2:p.Gly231Cys