Canonical Allele Identifier: CA390153397

Gene: RDH12 ZFYVE26 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729353T>C , CM000676.2:g.67729353T>C	GRCh38
NC_000014.8:g.68196070T>C , CM000676.1:g.68196070T>C	GRCh37
NC_000014.7:g.67265823T>C	NCBI36
NG_008321.1:g.32468T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152443.3:c.821T>C (RDH12) MANE Select	NP_689656.2:p.Leu274Pro
ENST00000551171.6:c.821T>C (RDH12) MANE Select	ENSP00000449079.1:p.Leu274Pro
NM_152443.2:c.821T>C (RDH12)	NP_689656.2:p.Leu274Pro
ENST00000267502.3:c.821T>C (RDH12)	ENSP00000267502.3:p.Leu274Pro
ENST00000394455.6:n.3146A>G (ZFYVE26)
ENST00000551171.5:c.821T>C (RDH12)	ENSP00000449079.1:p.Leu274Pro
ENST00000552873.1:n.190T>C (RDH12)
XM_017020925.2:c.1313-5842T>C (GPHN)	XP_016876414.1:n.1313-5842T>C
XM_017021125.1:c.*389A>G (ZFYVE26)	XP_016876614.1:n.*389A>G