Canonical Allele Identifier: CA390152871
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI

Linked Data

gnomAD v4: 14-67729200-T-C
MyVariant Identifiers: chr14:g.68195917T>C (hg19) chr14:g.67729200T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729200T>C , CM000676.2:g.67729200T>C GRCh38
NC_000014.8:g.68195917T>C , CM000676.1:g.68195917T>C GRCh37
NC_000014.7:g.67265670T>C NCBI36
NG_008321.1:g.32315T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.668T>C (RDH12) MANE Select ENSP00000449079.1:p.Val223Ala
ENST00000267502.3:c.668T>C (RDH12) ENSP00000267502.3:p.Val223Ala
ENST00000394455.6:n.3288+11A>G (ZFYVE26)
ENST00000551171.5:c.668T>C (RDH12) ENSP00000449079.1:p.Val223Ala
ENST00000552873.1:n.37T>C (RDH12)
NM_152443.2:c.668T>C (RDH12) NP_689656.2:p.Val223Ala
XM_017020925.2:c.1313-5995T>C (GPHN) XP_016876414.1:n.1313-5995T>C
XM_017021125.1:c.*542A>G (ZFYVE26) XP_016876614.1:n.*542A>G
NM_152443.3:c.668T>C (RDH12) MANE Select NP_689656.2:p.Val223Ala
Search 100 bp 5'
Search 100 bp 3'