Canonical Allele Identifier: CA390152869
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.68195916G>C (hg19) chr14:g.67729199G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729199G>C , CM000676.2:g.67729199G>C GRCh38
NC_000014.8:g.68195916G>C , CM000676.1:g.68195916G>C GRCh37
NC_000014.7:g.67265669G>C NCBI36
NG_008321.1:g.32314G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.667G>C (RDH12) MANE Select ENSP00000449079.1:p.Val223Leu
ENST00000267502.3:c.667G>C (RDH12) ENSP00000267502.3:p.Val223Leu
ENST00000394455.6:n.3288+12C>G (ZFYVE26)
ENST00000551171.5:c.667G>C (RDH12) ENSP00000449079.1:p.Val223Leu
ENST00000552873.1:n.36G>C (RDH12)
NM_152443.2:c.667G>C (RDH12) NP_689656.2:p.Val223Leu
XM_017020925.2:c.1313-5996G>C (GPHN) XP_016876414.1:n.1313-5996G>C
XM_017021125.1:c.*543C>G (ZFYVE26) XP_016876614.1:n.*543C>G
NM_152443.3:c.667G>C (RDH12) MANE Select NP_689656.2:p.Val223Leu
Search 100 bp 5'
Search 100 bp 3'