Canonical Allele Identifier: CA7238784
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.67729179T>C
GRCh37 chr14:g.68195896T>C
gnomAD v2:
14:68195896 T / C
gnomAD v3:
14:67729179 T / C
gnomAD v4:
chr14-67729179-T-C
Joint Max Group AF 0.00309403 (AFR)
Genomes Max Group AF 0.00260108 (AFR)
Exomes Max Group AF 0.00339634 (AFR)
ClinVar Allele:
330120
ClinVar RCV:
RCV000408169
RCV001109350
RCV001510147
ClinVar Variation:
313840
dbSNP:
77686476
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729179T>C , CM000676.2:g.67729179T>C GRCh38
NC_000014.8:g.68195896T>C , CM000676.1:g.68195896T>C GRCh37
NC_000014.7:g.67265649T>C NCBI36
NG_008321.1:g.32294T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.659-12T>C (RDH12) MANE Select ENSP00000449079.1:n.659-12T>C
ENST00000267502.3:c.659-12T>C (RDH12) ENSP00000267502.3:n.659-12T>C
ENST00000394455.6:n.3288+32A>G (ZFYVE26)
ENST00000551171.5:c.659-12T>C (RDH12) ENSP00000449079.1:n.659-12T>C
ENST00000552873.1:n.28-12T>C (RDH12)
NM_152443.2:c.659-12T>C (RDH12) NP_689656.2:n.659-12T>C
XM_017020925.2:c.1313-6016T>C (GPHN) XP_016876414.1:n.1313-6016T>C
XM_017021125.1:c.*563A>G (ZFYVE26) XP_016876614.1:n.*563A>G
NM_152443.3:c.659-12T>C (RDH12) MANE Select NP_689656.2:n.659-12T>C
Search 100 bp 5'
Search 100 bp 3'