Canonical Allele Identifier: CA357275415

Gene: RCHY1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.75509215T>C , CM000666.2:g.75509215T>C	GRCh38
NC_000004.11:g.76434425T>C , CM000666.1:g.76434425T>C	GRCh37
NC_000004.10:g.76653449T>C	NCBI36
NG_029152.1:g.10216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324439.10:c.172A>G MANE Select	ENSP00000321239.5:p.Lys58Glu
ENST00000324439.9:c.172A>G	ENSP00000321239.5:p.Lys58Glu
ENST00000380840.6:c.91-280A>G	ENSP00000370220.2:n.91-280A>G
ENST00000504085.5:c.172A>G	ENSP00000421958.1:p.Lys58Glu
ENST00000505105.5:c.172A>G	ENSP00000424631.1:p.Lys58Glu
ENST00000505514.5:n.593A>G
ENST00000507014.1:c.91-280A>G	ENSP00000424472.1:n.91-280A>G
ENST00000512706.5:c.106A>G	ENSP00000423976.1:p.Lys36Glu
ENST00000513083.5:n.172A>G
ENST00000513257.5:c.172A>G	ENSP00000421084.1:p.Lys58Glu
ENST00000513909.5:c.184A>G	ENSP00000427205.1:p.Lys62Glu
ENST00000514021.1:n.184A>G
ENST00000514589.5:n.304A>G
NM_001009922.2:c.172A>G	NP_001009922.1:p.Lys58Glu
NM_001278536.1:c.91-280A>G	NP_001265465.1:n.91-280A>G
NM_001278537.1:c.91-280A>G	NP_001265466.1:n.91-280A>G
NM_001278538.1:c.106A>G	NP_001265467.1:p.Lys36Glu
NM_001278539.1:c.-206A>G	NP_001265468.1:n.-206A>G
NM_015436.3:c.172A>G	NP_056251.2:p.Lys58Glu
NR_037913.1:n.316A>G
NR_037914.1:n.316A>G
NR_103723.1:n.316A>G
NR_103724.1:n.316A>G
NR_103725.1:n.94A>G
XM_011531838.1:c.-206A>G	XP_011530140.1:n.-206A>G
XM_011531839.1:c.-206A>G	XP_011530141.1:n.-206A>G
XM_011531838.2:c.-206A>G	XP_011530140.1:n.-206A>G
XM_011531839.2:c.-206A>G	XP_011530141.1:n.-206A>G
XM_024453984.1:c.-210A>G	XP_024309752.1:n.-210A>G
NM_001009922.3:c.172A>G	NP_001009922.1:p.Lys58Glu
NM_001278536.2:c.91-280A>G	NP_001265465.1:n.91-280A>G
NM_001278537.2:c.91-280A>G	NP_001265466.1:n.91-280A>G
NM_001278538.2:c.106A>G	NP_001265467.1:p.Lys36Glu
NM_001278539.2:c.-206A>G	NP_001265468.1:n.-206A>G
NM_001387136.1:c.-206A>G	NP_001374065.1:n.-206A>G
NM_001387137.1:c.-206A>G	NP_001374066.1:n.-206A>G
NM_015436.4:c.172A>G MANE Select	NP_056251.2:p.Lys58Glu