Canonical Allele Identifier: CA3252852

Gene: C6

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41201565T>C , CM000667.2:g.41201565T>C	GRCh38
NC_000005.9:g.41201667T>C , CM000667.1:g.41201667T>C	GRCh37
NC_000005.8:g.41237424T>C	NCBI36
NG_011582.1:g.64874A>G , LRG_29:g.64874A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000065.5:c.293A>G MANE Select	NP_000056.2:p.Glu98Gly
ENST00000337836.10:c.293A>G MANE Select	ENSP00000338861.5:p.Glu98Gly
NM_000065.3:c.293A>G	NP_000056.2:p.Glu98Gly
NM_000065.4:c.293A>G	NP_000056.2:p.Glu98Gly
NM_001115131.2:c.293A>G	NP_001108603.2:p.Glu98Gly
NM_001115131.3:c.293A>G	NP_001108603.2:p.Glu98Gly
NM_001115131.4:c.293A>G	NP_001108603.2:p.Glu98Gly
ENST00000263413.7:c.293A>G	ENSP00000263413.3:p.Glu98Gly
ENST00000337836.9:c.293A>G	ENSP00000338861.5:p.Glu98Gly
ENST00000417809.1:c.293A>G	ENSP00000396565.1:p.Glu98Gly
ENST00000433294.2:c.293A>G	ENSP00000401578.2:p.Glu98Gly
ENST00000706655.1:n.566A>G
ENST00000706656.1:n.470A>G
XM_005248357.1:c.320A>G	XP_005248414.1:p.Glu107Gly
XM_005248357.3:c.320A>G	XP_005248414.1:p.Glu107Gly
XM_006714496.2:c.320A>G	XP_006714559.1:p.Glu107Gly
XM_006714496.4:c.320A>G	XP_006714559.1:p.Glu107Gly
XM_011514114.1:c.320A>G	XP_011512416.1:p.Glu107Gly
XM_011514114.3:c.320A>G	XP_011512416.1:p.Glu107Gly
XM_011514115.1:c.293A>G	XP_011512417.1:p.Glu98Gly
XM_011514115.3:c.293A>G	XP_011512417.1:p.Glu98Gly
XM_011514116.1:c.293A>G	XP_011512418.1:p.Glu98Gly
XM_011514116.3:c.293A>G	XP_011512418.1:p.Glu98Gly
XM_011514117.1:c.293A>G	XP_011512419.1:p.Glu98Gly
XM_011514117.3:c.293A>G	XP_011512419.1:p.Glu98Gly
XM_011514118.1:c.293A>G	XP_011512420.1:p.Glu98Gly
XM_011514118.3:c.293A>G	XP_011512420.1:p.Glu98Gly
XM_011514119.1:c.320A>G	XP_011512421.1:p.Glu107Gly
XM_011514119.3:c.320A>G	XP_011512421.1:p.Glu107Gly
XM_011514120.1:c.170+1523A>G	XP_011512422.1:n.170+1523A>G
XM_017009818.2:c.293A>G	XP_016865307.1:p.Glu98Gly
XM_017009819.2:c.143+1523A>G	XP_016865308.1:n.143+1523A>G