Canonical Allele Identifier: CA615188356
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 1529834
ClinVar RCV Id: RCV002097117
dbSNP Id: rs1297430265
gnomAD v2: 14-68195893-C-A
gnomAD v4: 14-67729176-C-A
MyVariant Identifiers: chr14:g.68195893C>A (hg19) chr14:g.67729176C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729176C>A , CM000676.2:g.67729176C>A GRCh38
NC_000014.8:g.68195893C>A , CM000676.1:g.68195893C>A GRCh37
NC_000014.7:g.67265646C>A NCBI36
NG_008321.1:g.32291C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.659-15C>A (RDH12) MANE Select ENSP00000449079.1:n.659-15C>A
ENST00000267502.3:c.659-15C>A (RDH12) ENSP00000267502.3:n.659-15C>A
ENST00000394455.6:n.3288+35G>T (ZFYVE26)
ENST00000551171.5:c.659-15C>A (RDH12) ENSP00000449079.1:n.659-15C>A
ENST00000552873.1:n.28-15C>A (RDH12)
NM_152443.2:c.659-15C>A (RDH12) NP_689656.2:n.659-15C>A
XM_017020925.2:c.1313-6019C>A (GPHN) XP_016876414.1:n.1313-6019C>A
XM_017021125.1:c.*566G>T (ZFYVE26) XP_016876614.1:n.*566G>T
NM_152443.3:c.659-15C>A (RDH12) MANE Select NP_689656.2:n.659-15C>A
Search 100 bp 5'
Search 100 bp 3'