Canonical Allele Identifier: CA252077

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• ClinVar Variation Id: 2046
• ClinVar RCV Id: RCV000002127 ; RCV001073384 ; RCV001092306
• dbSNP Id: rs28940313
• gnomAD v3: 14-67729209-A-G
• gnomAD v4: 14-67729209-A-G
• MyVariant Identifiers: chr14:g.68195926A>G (hg19) ; chr14:g.67729209A>G (hg38)
• PubMed: PMID:15258582 ; PMID:15322982

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729209A>G , CM000676.2:g.67729209A>G	GRCh38
NC_000014.8:g.68195926A>G , CM000676.1:g.68195926A>G	GRCh37
NC_000014.7:g.67265679A>G	NCBI36
NG_008321.1:g.32324A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.677A>G (RDH12) MANE Select	ENSP00000449079.1:p.Tyr226Cys
ENST00000267502.3:c.677A>G (RDH12)	ENSP00000267502.3:p.Tyr226Cys
ENST00000394455.6:n.3288+2T>C (ZFYVE26)
ENST00000551171.5:c.677A>G (RDH12)	ENSP00000449079.1:p.Tyr226Cys
ENST00000552873.1:n.46A>G (RDH12)
NM_152443.2:c.677A>G (RDH12)	NP_689656.2:p.Tyr226Cys
XM_017020925.2:c.1313-5986A>G (GPHN)	XP_016876414.1:n.1313-5986A>G
XM_017021125.1:c.*533T>C (ZFYVE26)	XP_016876614.1:n.*533T>C
NM_152443.3:c.677A>G (RDH12) MANE Select	NP_689656.2:p.Tyr226Cys