Canonical Allele Identifier: CA2964585

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.75514253C>A , CM000666.2:g.75514253C>A GRCh38
NC_000004.11:g.76439463C>A , CM000666.1:g.76439463C>A GRCh37
NC_000004.10:g.76658487C>A NCBI36
NG_029152.1:g.5178G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324439.10:c.34G>T (RCHY1) MANE Select ENSP00000321239.5:p.Gly12Cys
ENST00000324439.9:c.34G>T (RCHY1) ENSP00000321239.5:p.Gly12Cys
ENST00000380840.6:c.34G>T (RCHY1) ENSP00000370220.2:p.Gly12Cys
ENST00000504085.5:c.34G>T (RCHY1) ENSP00000421958.1:p.Gly12Cys
ENST00000504218.5:c.-410C>A (THAP6) ENSP00000425646.1:n.-410C>A
ENST00000505105.5:c.34G>T (RCHY1) ENSP00000424631.1:p.Gly12Cys
ENST00000506261.5:c.-21+255C>A (THAP6) ENSP00000422402.1:n.-21+255C>A
ENST00000507014.1:c.34G>T (RCHY1) ENSP00000424472.1:p.Gly12Cys
ENST00000512706.5:c.12G>T (RCHY1) ENSP00000423976.1:p.Ala4=
ENST00000513083.5:n.34G>T (RCHY1)
ENST00000513257.5:c.34G>T (RCHY1) ENSP00000421084.1:p.Gly12Cys
ENST00000513909.5:c.4G>T (RCHY1) ENSP00000427205.1:p.Gly2Cys
ENST00000514021.1:n.102+410G>T (RCHY1)
ENST00000514589.5:n.166G>T (RCHY1)
NM_001009922.2:c.34G>T (RCHY1) NP_001009922.1:p.Gly12Cys
NM_001278536.1:c.34G>T (RCHY1) NP_001265465.1:p.Gly12Cys
NM_001278537.1:c.34G>T (RCHY1) NP_001265466.1:p.Gly12Cys
NM_001278538.1:c.12G>T (RCHY1) NP_001265467.1:p.Ala4=
NM_001278539.1:c.-386G>T (RCHY1) NP_001265468.1:n.-386G>T
NM_015436.3:c.34G>T (RCHY1) NP_056251.2:p.Gly12Cys
NR_037913.1:n.178G>T (RCHY1)
NR_037914.1:n.178G>T (RCHY1)
NR_103723.1:n.178G>T (RCHY1)
NR_103724.1:n.178G>T (RCHY1)
NR_103725.1:n.12+410G>T (RCHY1)
XM_011531667.1:c.-21+255C>A (THAP6) XP_011529969.1:n.-21+255C>A
XM_011531838.1:c.-344G>T (RCHY1) XP_011530140.1:n.-344G>T
XM_011531839.1:c.-288+410G>T (RCHY1) XP_011530141.1:n.-288+410G>T
XM_011531667.3:c.-21+255C>A (THAP6) XP_011529969.1:n.-21+255C>A
XM_011531838.2:c.-344G>T (RCHY1) XP_011530140.1:n.-344G>T
XM_011531839.2:c.-288+410G>T (RCHY1) XP_011530141.1:n.-288+410G>T
XM_024453984.1:c.-292+410G>T (RCHY1) XP_024309752.1:n.-292+410G>T
NM_001009922.3:c.34G>T (RCHY1) NP_001009922.1:p.Gly12Cys
NM_001278536.2:c.34G>T (RCHY1) NP_001265465.1:p.Gly12Cys
NM_001278537.2:c.34G>T (RCHY1) NP_001265466.1:p.Gly12Cys
NM_001278538.2:c.12G>T (RCHY1) NP_001265467.1:p.Ala4=
NM_001278539.2:c.-386G>T (RCHY1) NP_001265468.1:n.-386G>T
NM_001387136.1:c.-288+410G>T (RCHY1) NP_001374065.1:n.-288+410G>T
NM_001387137.1:c.-344G>T (RCHY1) NP_001374066.1:n.-344G>T
NM_015436.4:c.34G>T (RCHY1) MANE Select NP_056251.2:p.Gly12Cys