Canonical Allele Identifier: CA390152926
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.68195944T>G (hg19) chr14:g.67729227T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729227T>G , CM000676.2:g.67729227T>G GRCh38
NC_000014.8:g.68195944T>G , CM000676.1:g.68195944T>G GRCh37
NC_000014.7:g.67265697T>G NCBI36
NG_008321.1:g.32342T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.695T>G (RDH12) MANE Select ENSP00000449079.1:p.Val232Gly
ENST00000267502.3:c.695T>G (RDH12) ENSP00000267502.3:p.Val232Gly
ENST00000394455.6:n.3272A>C (ZFYVE26)
ENST00000551171.5:c.695T>G (RDH12) ENSP00000449079.1:p.Val232Gly
ENST00000552873.1:n.64T>G (RDH12)
NM_152443.2:c.695T>G (RDH12) NP_689656.2:p.Val232Gly
XM_017020925.2:c.1313-5968T>G (GPHN) XP_016876414.1:n.1313-5968T>G
XM_017021125.1:c.*515A>C (ZFYVE26) XP_016876614.1:n.*515A>C
NM_152443.3:c.695T>G (RDH12) MANE Select NP_689656.2:p.Val232Gly
Search 100 bp 5'
Search 100 bp 3'