Canonical Allele Identifier: CA486768331
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

gnomAD v4: 14-67725109-C-T
MyVariant Identifiers: chr14:g.68191826C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725109C>T , CM000676.2:g.67725109C>T GRCh38
NC_000014.8:g.68191826C>T , CM000676.1:g.68191826C>T GRCh37
NC_000014.7:g.67261579C>T NCBI36
NG_008321.1:g.28224C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.198C>T (RDH12) MANE Select ENSP00000449079.1:p.Val66=
ENST00000267502.3:c.198C>T (RDH12) ENSP00000267502.3:p.Val66=
ENST00000551171.5:c.198C>T (RDH12) ENSP00000449079.1:p.Val66=
NM_152443.2:c.198C>T (RDH12) NP_689656.2:p.Val66=
XM_017020925.2:c.1313-10086C>T (GPHN) XP_016876414.1:n.1313-10086C>T
NM_152443.3:c.198C>T (RDH12) MANE Select NP_689656.2:p.Val66=
Search 100 bp 5'
Search 100 bp 3'