Canonical Allele Identifier: CA2144004305

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• dbSNP Id: rs1289393877
• gnomAD v4: 14-67729163-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729163T>C , CM000676.2:g.67729163T>C	GRCh38
NC_000014.8:g.68195880T>C , CM000676.1:g.68195880T>C	GRCh37
NC_000014.7:g.67265633T>C	NCBI36
NG_008321.1:g.32278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.659-28T>C (RDH12) MANE Select	ENSP00000449079.1:n.659-28T>C
ENST00000267502.3:c.659-28T>C (RDH12)	ENSP00000267502.3:n.659-28T>C
ENST00000394455.6:n.3288+48A>G (ZFYVE26)
ENST00000551171.5:c.659-28T>C (RDH12)	ENSP00000449079.1:n.659-28T>C
ENST00000552873.1:n.28-28T>C (RDH12)
NM_152443.2:c.659-28T>C (RDH12)	NP_689656.2:n.659-28T>C
XM_017020925.2:c.1313-6032T>C (GPHN)	XP_016876414.1:n.1313-6032T>C
XM_017021125.1:c.*579A>G (ZFYVE26)	XP_016876614.1:n.*579A>G
NM_152443.3:c.659-28T>C (RDH12) MANE Select	NP_689656.2:n.659-28T>C