Canonical Allele Identifier: CA2144002587

Gene: RDH12 GPHN

Linked Data

• dbSNP Id: rs2038168406

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67725039C>G , CM000676.2:g.67725039C>G	GRCh38
NC_000014.8:g.68191756C>G , CM000676.1:g.68191756C>G	GRCh37
NC_000014.7:g.67261509C>G	NCBI36
NG_008321.1:g.28154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.188-60C>G (RDH12) MANE Select	ENSP00000449079.1:n.188-60C>G
ENST00000267502.3:c.188-60C>G (RDH12)	ENSP00000267502.3:n.188-60C>G
ENST00000551171.5:c.188-60C>G (RDH12)	ENSP00000449079.1:n.188-60C>G
NM_152443.2:c.188-60C>G (RDH12)	NP_689656.2:n.188-60C>G
XM_017020925.2:c.1313-10156C>G (GPHN)	XP_016876414.1:n.1313-10156C>G
NM_152443.3:c.188-60C>G (RDH12) MANE Select	NP_689656.2:n.188-60C>G