Canonical Allele Identifier: CA390148520
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

gnomAD v4: 14-67725119-T-A
MyVariant Identifiers: chr14:g.68191836T>A (hg19) chr14:g.67725119T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725119T>A , CM000676.2:g.67725119T>A GRCh38
NC_000014.8:g.68191836T>A , CM000676.1:g.68191836T>A GRCh37
NC_000014.7:g.67261589T>A NCBI36
NG_008321.1:g.28234T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.208T>A (RDH12) MANE Select ENSP00000449079.1:p.Cys70Ser
ENST00000267502.3:c.208T>A (RDH12) ENSP00000267502.3:p.Cys70Ser
ENST00000551171.5:c.208T>A (RDH12) ENSP00000449079.1:p.Cys70Ser
NM_152443.2:c.208T>A (RDH12) NP_689656.2:p.Cys70Ser
XM_017020925.2:c.1313-10076T>A (GPHN) XP_016876414.1:n.1313-10076T>A
NM_152443.3:c.208T>A (RDH12) MANE Select NP_689656.2:p.Cys70Ser
Search 100 bp 5'
Search 100 bp 3'