Canonical Allele Identifier: CA7238798
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.67729233G>A
GRCh37 chr14:g.68195950G>A
Revel Score:
ENST00000551171 (MANE Select) 0.555
ENST00000267502 0.555
ENST00000539142 0.555
gnomAD v2:
14:68195950 G / A
gnomAD v3:
14:67729233 G / A
gnomAD v4:
chr14-67729233-G-A
Joint Max Group AF 0.00040221 (AMR)
Genomes Max Group AF 0.00026049 (AMR)
Exomes Max Group AF 0.00038799 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729233G>A , CM000676.2:g.67729233G>A GRCh38
NC_000014.8:g.68195950G>A , CM000676.1:g.68195950G>A GRCh37
NC_000014.7:g.67265703G>A NCBI36
NG_008321.1:g.32348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.701G>A (RDH12) MANE Select ENSP00000449079.1:p.Arg234His
ENST00000267502.3:c.701G>A (RDH12) ENSP00000267502.3:p.Arg234His
ENST00000394455.6:n.3266C>T (ZFYVE26)
ENST00000551171.5:c.701G>A (RDH12) ENSP00000449079.1:p.Arg234His
ENST00000552873.1:n.70G>A (RDH12)
NM_152443.2:c.701G>A (RDH12) NP_689656.2:p.Arg234His
XM_017020925.2:c.1313-5962G>A (GPHN) XP_016876414.1:n.1313-5962G>A
XM_017021125.1:c.*509C>T (ZFYVE26) XP_016876614.1:n.*509C>T
NM_152443.3:c.701G>A (RDH12) MANE Select NP_689656.2:p.Arg234His
Search 100 bp 5'
Search 100 bp 3'