Canonical Allele Identifier: CA390152907

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729218A>T , CM000676.2:g.67729218A>T GRCh38
NC_000014.8:g.68195935A>T , CM000676.1:g.68195935A>T GRCh37
NC_000014.7:g.67265688A>T NCBI36
NG_008321.1:g.32333A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.686A>T (RDH12) MANE Select ENSP00000449079.1:p.His229Leu
ENST00000267502.3:c.686A>T (RDH12) ENSP00000267502.3:p.His229Leu
ENST00000394455.6:n.3281T>A (ZFYVE26)
ENST00000551171.5:c.686A>T (RDH12) ENSP00000449079.1:p.His229Leu
ENST00000552873.1:n.55A>T (RDH12)
NM_152443.2:c.686A>T (RDH12) NP_689656.2:p.His229Leu
XM_017020925.2:c.1313-5977A>T (GPHN) XP_016876414.1:n.1313-5977A>T
XM_017021125.1:c.*524T>A (ZFYVE26) XP_016876614.1:n.*524T>A
NM_152443.3:c.686A>T (RDH12) MANE Select NP_689656.2:p.His229Leu