Canonical Allele Identifier: CA7238882
Community Standard Title: NM_152443.3(RDH12):c.932T>C (p.Leu311Pro)
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67733829T>C , CM000676.2:g.67733829T>C GRCh38
NC_000014.8:g.68200546T>C , CM000676.1:g.68200546T>C GRCh37
NC_000014.7:g.67270299T>C NCBI36
NG_008321.1:g.36944T>C

Transcript Alleles

HGVS Amino-acid Change
NM_152443.3:c.932T>C (RDH12) MANE Select NP_689656.2:p.Leu311Pro
ENST00000551171.6:c.932T>C (RDH12) MANE Select ENSP00000449079.1:p.Leu311Pro
NM_152443.2:c.932T>C (RDH12) NP_689656.2:p.Leu311Pro
ENST00000267502.3:c.932T>C (RDH12) ENSP00000267502.3:p.Leu311Pro
ENST00000394455.6:n.2680-4010A>G (ZFYVE26)
ENST00000551171.5:c.932T>C (RDH12) ENSP00000449079.1:p.Leu311Pro
XM_006720093.2:c.7417-4010A>G (ZFYVE26) XP_006720156.1:n.7417-4010A>G
XM_017020925.2:c.1313-1366T>C (GPHN) XP_016876414.1:n.1313-1366T>C
XM_017021125.1:c.7435-4010A>G (ZFYVE26) XP_016876614.1:n.7435-4010A>G
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