Canonical Allele Identifier: CA2144002629

Gene: RDH12 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67725107G= , CM000676.2:g.67725107G=	GRCh38
NC_000014.8:g.68191824G= , CM000676.1:g.68191824G=	GRCh37
NC_000014.7:g.67261577G=	NCBI36
NG_008321.1:g.28222G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000551171.6:c.196G= (RDH12) MANE Select	ENSP00000449079.1:p.Val66=
ENST00000267502.3:c.196G= (RDH12)	ENSP00000267502.3:p.Val66=
ENST00000551171.5:c.196G= (RDH12)	ENSP00000449079.1:p.Val66=
NM_152443.2:c.196G= (RDH12)	NP_689656.2:p.Val66=
XM_017020925.2:c.1313-10088G= (GPHN)	XP_016876414.1:n.1313-10088G=
NM_152443.3:c.196G= (RDH12) MANE Select	NP_689656.2:p.Val66=