Canonical Allele Identifier: CA117171557

Gene: FYB1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.39110357T>G , CM000667.2:g.39110357T>G	GRCh38
NC_000005.9:g.39110459T>G , CM000667.1:g.39110459T>G	GRCh37
NC_000005.8:g.39146216T>G	NCBI36
NG_029596.1:g.165301A>C
NG_029596.2:g.165301A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001465.6:c.2434A>C MANE Select	NP_001456.3:p.Asn812His
ENST00000512982.4:c.2434A>C MANE Select	ENSP00000425845.3:p.Asn812His
NM_001243093.1:c.2464A>C	NP_001230022.1:p.Asn822His
NM_001243093.2:c.2464A>C	NP_001230022.1:p.Asn822His
NM_001349333.1:c.2434A>C	NP_001336262.1:p.Asn812His
NM_001349333.2:c.2434A>C	NP_001336262.1:p.Asn812His
NM_001465.4:c.2434A>C	NP_001456.3:p.Asn812His
NM_001465.5:c.2434A>C	NP_001456.3:p.Asn812His
NM_018594.2:c.2326A>C	NP_061064.2:p.Asn776His
NM_199335.3:c.2296A>C	NP_955367.1:p.Asn766His
NM_199335.4:c.2296A>C	NP_955367.1:p.Asn766His
NM_199335.5:c.2296A>C	NP_955367.1:p.Asn766His
ENST00000351578.10:c.2296A>C	ENSP00000316460.7:p.Asn766His
ENST00000351578.12:c.2296A>C	ENSP00000316460.7:p.Asn766His
ENST00000505428.5:c.2434A>C	ENSP00000427114.1:p.Asn812His
ENST00000512982.2:c.2464A>C	ENSP00000425845.2:p.Asn822His
ENST00000515010.5:c.2296A>C	ENSP00000426346.1:p.Asn766His
ENST00000642942.1:n.286A>C
ENST00000646045.2:c.2464A>C	ENSP00000493623.1:p.Asn822His
ENST00000646444.1:c.620A>C
ENST00000647313.1:n.428A>C
XM_006714464.2:c.2434A>C	XP_006714527.1:p.Asn812His
XM_006714464.3:c.2434A>C	XP_006714527.1:p.Asn812His
XM_006714465.2:c.2434A>C	XP_006714528.1:p.Asn812His
XM_006714466.2:c.2434A>C	XP_006714529.1:p.Asn812His
XM_011514008.1:c.2464A>C	XP_011512310.1:p.Asn822His
XM_011514008.3:c.2464A>C	XP_011512310.1:p.Asn822His
XM_011514009.1:c.2434A>C	XP_011512311.1:p.Asn812His
XM_011514010.1:c.2434A>C	XP_011512312.1:p.Asn812His
XM_011514011.1:c.2326A>C	XP_011512313.1:p.Asn776His
XM_011514011.2:c.2326A>C	XP_011512313.1:p.Asn776His