Canonical Allele Identifier: CA2144004313

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729179T= , CM000676.2:g.67729179T= GRCh38
NC_000014.8:g.68195896T= , CM000676.1:g.68195896T= GRCh37
NC_000014.7:g.67265649T= NCBI36
NG_008321.1:g.32294T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.659-12T= (RDH12) MANE Select ENSP00000449079.1:n.659-12T=
ENST00000267502.3:c.659-12T= (RDH12) ENSP00000267502.3:n.659-12T=
ENST00000394455.6:n.3288+32A= (ZFYVE26)
ENST00000551171.5:c.659-12T= (RDH12) ENSP00000449079.1:n.659-12T=
ENST00000552873.1:n.28-12T= (RDH12)
NM_152443.2:c.659-12T= (RDH12) NP_689656.2:n.659-12T=
XM_017020925.2:c.1313-6016T= (GPHN) XP_016876414.1:n.1313-6016T=
XM_017021125.1:c.*563A= (ZFYVE26) XP_016876614.1:n.*563A=
NM_152443.3:c.659-12T= (RDH12) MANE Select NP_689656.2:n.659-12T=