Canonical Allele Identifier: CA390152903

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• dbSNP Id: rs1252565353
• gnomAD v4: 14-67729217-C-T
• MyVariant Identifiers: chr14:g.68195934C>T (hg19) ; chr14:g.67729217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729217C>T , CM000676.2:g.67729217C>T	GRCh38
NC_000014.8:g.68195934C>T , CM000676.1:g.68195934C>T	GRCh37
NC_000014.7:g.67265687C>T	NCBI36
NG_008321.1:g.32332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.685C>T (RDH12) MANE Select	ENSP00000449079.1:p.His229Tyr
ENST00000267502.3:c.685C>T (RDH12)	ENSP00000267502.3:p.His229Tyr
ENST00000394455.6:n.3282G>A (ZFYVE26)
ENST00000551171.5:c.685C>T (RDH12)	ENSP00000449079.1:p.His229Tyr
ENST00000552873.1:n.54C>T (RDH12)
NM_152443.2:c.685C>T (RDH12)	NP_689656.2:p.His229Tyr
XM_017020925.2:c.1313-5978C>T (GPHN)	XP_016876414.1:n.1313-5978C>T
XM_017021125.1:c.*525G>A (ZFYVE26)	XP_016876614.1:n.*525G>A
NM_152443.3:c.685C>T (RDH12) MANE Select	NP_689656.2:p.His229Tyr