Canonical Allele Identifier: CA262810028

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• dbSNP Id: rs911108941
• gnomAD v3: 14-67729122-T-G
• gnomAD v4: 14-67729122-T-G
• MyVariant Identifiers: chr14:g.68195839T>G (hg19) ; chr14:g.67729122T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729122T>G , CM000676.2:g.67729122T>G	GRCh38
NC_000014.8:g.68195839T>G , CM000676.1:g.68195839T>G	GRCh37
NC_000014.7:g.67265592T>G	NCBI36
NG_008321.1:g.32237T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.659-69T>G (RDH12) MANE Select	ENSP00000449079.1:n.659-69T>G
ENST00000267502.3:c.659-69T>G (RDH12)	ENSP00000267502.3:n.659-69T>G
ENST00000394455.6:n.3288+89A>C (ZFYVE26)
ENST00000551171.5:c.659-69T>G (RDH12)	ENSP00000449079.1:n.659-69T>G
ENST00000552873.1:n.28-69T>G (RDH12)
NM_152443.2:c.659-69T>G (RDH12)	NP_689656.2:n.659-69T>G
XM_017020925.2:c.1313-6073T>G (GPHN)	XP_016876414.1:n.1313-6073T>G
XM_017021125.1:c.*620A>C (ZFYVE26)	XP_016876614.1:n.*620A>C
NM_152443.3:c.659-69T>G (RDH12) MANE Select	NP_689656.2:n.659-69T>G