Canonical Allele Identifier: CA390152885

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729208T>C , CM000676.2:g.67729208T>C GRCh38
NC_000014.8:g.68195925T>C , CM000676.1:g.68195925T>C GRCh37
NC_000014.7:g.67265678T>C NCBI36
NG_008321.1:g.32323T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.676T>C (RDH12) MANE Select ENSP00000449079.1:p.Tyr226His
ENST00000267502.3:c.676T>C (RDH12) ENSP00000267502.3:p.Tyr226His
ENST00000394455.6:n.3288+3A>G (ZFYVE26)
ENST00000551171.5:c.676T>C (RDH12) ENSP00000449079.1:p.Tyr226His
ENST00000552873.1:n.45T>C (RDH12)
NM_152443.2:c.676T>C (RDH12) NP_689656.2:p.Tyr226His
XM_017020925.2:c.1313-5987T>C (GPHN) XP_016876414.1:n.1313-5987T>C
XM_017021125.1:c.*534A>G (ZFYVE26) XP_016876614.1:n.*534A>G
NM_152443.3:c.676T>C (RDH12) MANE Select NP_689656.2:p.Tyr226His