Canonical Allele Identifier: CA10581695

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• ClinVar Variation Id: 236431
• ClinVar RCV Id: RCV000225656 ; RCV001206727 ; RCV001833238
• dbSNP Id: rs878853338
• gnomAD v4: 14-67729382-T-C
• MyVariant Identifiers: chr14:g.68196099T>C (hg19) ; chr14:g.67729382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729382T>C , CM000676.2:g.67729382T>C	GRCh38
NC_000014.8:g.68196099T>C , CM000676.1:g.68196099T>C	GRCh37
NC_000014.7:g.67265852T>C	NCBI36
NG_008321.1:g.32497T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.848+2T>C (RDH12) MANE Select	ENSP00000449079.1:n.848+2T>C
ENST00000267502.3:c.848+2T>C (RDH12)	ENSP00000267502.3:n.848+2T>C
ENST00000394455.6:n.3117A>G (ZFYVE26)
ENST00000551171.5:c.848+2T>C (RDH12)	ENSP00000449079.1:n.848+2T>C
ENST00000552873.1:n.219T>C (RDH12)
NM_152443.2:c.848+2T>C (RDH12)	NP_689656.2:n.848+2T>C
XM_017020925.2:c.1313-5813T>C (GPHN)	XP_016876414.1:n.1313-5813T>C
XM_017021125.1:c.*360A>G (ZFYVE26)	XP_016876614.1:n.*360A>G
NM_152443.3:c.848+2T>C (RDH12) MANE Select	NP_689656.2:n.848+2T>C