Canonical Allele Identifier: CA2144004317

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729189A= , CM000676.2:g.67729189A= GRCh38
NC_000014.8:g.68195906A= , CM000676.1:g.68195906A= GRCh37
NC_000014.7:g.67265659A= NCBI36
NG_008321.1:g.32304A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.659-2A= (RDH12) MANE Select ENSP00000449079.1:n.659-2A=
ENST00000267502.3:c.659-2A= (RDH12) ENSP00000267502.3:n.659-2A=
ENST00000394455.6:n.3288+22T= (ZFYVE26)
ENST00000551171.5:c.659-2A= (RDH12) ENSP00000449079.1:n.659-2A=
ENST00000552873.1:n.28-2A= (RDH12)
NM_152443.2:c.659-2A= (RDH12) NP_689656.2:n.659-2A=
XM_017020925.2:c.1313-6006A= (GPHN) XP_016876414.1:n.1313-6006A=
XM_017021125.1:c.*553T= (ZFYVE26) XP_016876614.1:n.*553T=
NM_152443.3:c.659-2A= (RDH12) MANE Select NP_689656.2:n.659-2A=