Canonical Allele Identifier: CA2625366096

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• gnomAD v4: 14-67729144-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729144T>C , CM000676.2:g.67729144T>C	GRCh38
NC_000014.8:g.68195861T>C , CM000676.1:g.68195861T>C	GRCh37
NC_000014.7:g.67265614T>C	NCBI36
NG_008321.1:g.32259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.659-47T>C (RDH12) MANE Select	ENSP00000449079.1:n.659-47T>C
ENST00000267502.3:c.659-47T>C (RDH12)	ENSP00000267502.3:n.659-47T>C
ENST00000394455.6:n.3288+67A>G (ZFYVE26)
ENST00000551171.5:c.659-47T>C (RDH12)	ENSP00000449079.1:n.659-47T>C
ENST00000552873.1:n.28-47T>C (RDH12)
NM_152443.2:c.659-47T>C (RDH12)	NP_689656.2:n.659-47T>C
XM_017020925.2:c.1313-6051T>C (GPHN)	XP_016876414.1:n.1313-6051T>C
XM_017021125.1:c.*598A>G (ZFYVE26)	XP_016876614.1:n.*598A>G
NM_152443.3:c.659-47T>C (RDH12) MANE Select	NP_689656.2:n.659-47T>C