Canonical Allele Identifier: CA114083

Gene: CYB5R3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42631386A>G , CM000684.2:g.42631386A>G	GRCh38
NC_000022.10:g.43027392A>G , CM000684.1:g.43027392A>G	GRCh37
NC_000022.9:g.41357336A>G	NCBI36
NG_012194.1:g.23014T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.218T>C	ENSP00000354468.5:p.Leu73Pro
ENST00000402438.6:c.149T>C	ENSP00000385679.1:p.Leu50Pro
ENST00000407332.6:c.236T>C	ENSP00000384457.2:p.Leu79Pro
ENST00000407623.8:c.149T>C	ENSP00000384834.3:p.Leu50Pro
ENST00000438270.2:c.149T>C	ENSP00000403439.2:p.Leu50Pro
ENST00000466276.2:n.285T>C
ENST00000686129.1:c.149T>C	ENSP00000508623.1:p.Leu50Pro
ENST00000686523.1:c.*167T>C	ENSP00000508940.1:n.*167T>C
ENST00000687183.1:n.279T>C
ENST00000687198.1:c.149T>C	ENSP00000508492.1:p.Leu50Pro
ENST00000688117.1:c.317T>C	ENSP00000509015.1:p.Leu106Pro
ENST00000688244.1:c.218T>C	ENSP00000510355.1:p.Leu73Pro
ENST00000689001.1:n.236T>C
ENST00000689195.1:c.218T>C	ENSP00000509895.1:p.Leu73Pro
ENST00000689239.1:n.385T>C
ENST00000689795.1:n.380T>C
ENST00000690835.1:c.218T>C	ENSP00000509038.1:p.Leu73Pro
ENST00000690993.1:n.295T>C
ENST00000691295.1:c.218T>C	ENSP00000508706.1:p.Leu73Pro
ENST00000691918.1:c.197T>C	ENSP00000509525.1:p.Leu66Pro
ENST00000692152.1:c.149T>C	ENSP00000509317.1:p.Leu50Pro
ENST00000692344.1:n.242T>C
ENST00000693157.1:c.147-398T>C	ENSP00000510610.1:n.147-398T>C
ENST00000693363.1:c.218T>C	ENSP00000510411.1:p.Leu73Pro
ENST00000693367.1:c.218T>C	ENSP00000508815.1:p.Leu73Pro
ENST00000693639.1:c.211T>C	ENSP00000510223.1:p.Ser71Pro
ENST00000693646.1:c.133-398T>C	ENSP00000508449.1:n.133-398T>C
ENST00000693716.1:n.446T>C
ENST00000352397.10:c.218T>C MANE Select	ENSP00000338461.6:p.Leu73Pro
ENST00000352397.9:c.218T>C	ENSP00000338461.6:p.Leu73Pro
ENST00000361740.8:c.317T>C	ENSP00000354468.4:p.Leu106Pro
ENST00000402438.5:c.149T>C	ENSP00000385679.1:p.Leu50Pro
ENST00000407332.5:c.149T>C	ENSP00000384457.1:p.Leu50Pro
ENST00000407623.7:c.149T>C	ENSP00000384834.3:p.Leu50Pro
ENST00000438270.1:c.149T>C	ENSP00000403439.1:p.Leu50Pro
ENST00000466276.1:n.236T>C
ENST00000470741.1:n.1963T>C
NM_000398.6:c.218T>C	NP_000389.1:p.Leu73Pro
NM_001129819.2:c.149T>C	NP_001123291.1:p.Leu50Pro
NM_001171660.1:c.317T>C	NP_001165131.1:p.Leu106Pro
NM_001171661.1:c.149T>C	NP_001165132.1:p.Leu50Pro
NM_007326.4:c.149T>C	NP_015565.1:p.Leu50Pro
NM_000398.7:c.218T>C MANE Select	NP_000389.1:p.Leu73Pro
NM_001171660.2:c.317T>C	NP_001165131.1:p.Leu106Pro