Canonical Allele Identifier: CA2144002679

Gene: RDH12 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67725217C= , CM000676.2:g.67725217C=	GRCh38
NC_000014.8:g.68191934C= , CM000676.1:g.68191934C=	GRCh37
NC_000014.7:g.67261687C=	NCBI36
NG_008321.1:g.28332C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000551171.6:c.306C= (RDH12) MANE Select	ENSP00000449079.1:p.Thr102=
ENST00000267502.3:c.306C= (RDH12)	ENSP00000267502.3:p.Thr102=
ENST00000551171.5:c.306C= (RDH12)	ENSP00000449079.1:p.Thr102=
NM_152443.2:c.306C= (RDH12)	NP_689656.2:p.Thr102=
XM_017020925.2:c.1313-9978C= (GPHN)	XP_016876414.1:n.1313-9978C=
NM_152443.3:c.306C= (RDH12) MANE Select	NP_689656.2:p.Thr102=