Canonical Allele Identifier: CA2144004331

Gene: RDH12 ZFYVE26 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729216G= , CM000676.2:g.67729216G=	GRCh38
NC_000014.8:g.68195933G= , CM000676.1:g.68195933G=	GRCh37
NC_000014.7:g.67265686G=	NCBI36
NG_008321.1:g.32331G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000551171.6:c.684G= (RDH12) MANE Select	ENSP00000449079.1:p.Val228=
ENST00000267502.3:c.684G= (RDH12)	ENSP00000267502.3:p.Val228=
ENST00000394455.6:n.3283C= (ZFYVE26)
ENST00000551171.5:c.684G= (RDH12)	ENSP00000449079.1:p.Val228=
ENST00000552873.1:n.53G= (RDH12)
NM_152443.2:c.684G= (RDH12)	NP_689656.2:p.Val228=
XM_017020925.2:c.1313-5979G= (GPHN)	XP_016876414.1:n.1313-5979G=
XM_017021125.1:c.*526C= (ZFYVE26)	XP_016876614.1:n.*526C=
NM_152443.3:c.684G= (RDH12) MANE Select	NP_689656.2:p.Val228=