Canonical Allele Identifier: CA2144004334

Gene: RDH12 ZFYVE26 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729219C= , CM000676.2:g.67729219C=	GRCh38
NC_000014.8:g.68195936C= , CM000676.1:g.68195936C=	GRCh37
NC_000014.7:g.67265689C=	NCBI36
NG_008321.1:g.32334C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.687C= (RDH12) MANE Select	ENSP00000449079.1:p.His229=
ENST00000267502.3:c.687C= (RDH12)	ENSP00000267502.3:p.His229=
ENST00000394455.6:n.3280G= (ZFYVE26)
ENST00000551171.5:c.687C= (RDH12)	ENSP00000449079.1:p.His229=
ENST00000552873.1:n.56C= (RDH12)
NM_152443.2:c.687C= (RDH12)	NP_689656.2:p.His229=
XM_017020925.2:c.1313-5976C= (GPHN)	XP_016876414.1:n.1313-5976C=
XM_017021125.1:c.*523G= (ZFYVE26)	XP_016876614.1:n.*523G=
NM_152443.3:c.687C= (RDH12) MANE Select	NP_689656.2:p.His229=