Canonical Allele Identifier: CA3252528

Gene: C6

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41172311A>G , CM000667.2:g.41172311A>G	GRCh38
NC_000005.9:g.41172413A>G , CM000667.1:g.41172413A>G	GRCh37
NC_000005.8:g.41208170A>G	NCBI36
NG_011582.1:g.94128T>C , LRG_29:g.94128T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706655.1:n.1478T>C
ENST00000337836.10:c.1205T>C MANE Select	ENSP00000338861.5:p.Ile402Thr
ENST00000263413.7:c.1205T>C	ENSP00000263413.3:p.Ile402Thr
ENST00000337836.9:c.1205T>C	ENSP00000338861.5:p.Ile402Thr
ENST00000473450.1:n.210T>C
ENST00000475349.5:n.604T>C
NM_000065.3:c.1205T>C	NP_000056.2:p.Ile402Thr
NM_001115131.2:c.1205T>C	NP_001108603.2:p.Ile402Thr
XM_005248357.1:c.1232T>C	XP_005248414.1:p.Ile411Thr
XM_006714496.2:c.1232T>C	XP_006714559.1:p.Ile411Thr
XM_011514114.1:c.1232T>C	XP_011512416.1:p.Ile411Thr
XM_011514115.1:c.1205T>C	XP_011512417.1:p.Ile402Thr
XM_011514116.1:c.1205T>C	XP_011512418.1:p.Ile402Thr
XM_011514117.1:c.1205T>C	XP_011512419.1:p.Ile402Thr
XM_011514118.1:c.1205T>C	XP_011512420.1:p.Ile402Thr
XM_011514119.1:c.1232T>C	XP_011512421.1:p.Ile411Thr
XM_011514120.1:c.788T>C	XP_011512422.1:p.Ile263Thr
XM_011514121.1:c.248T>C	XP_011512423.1:p.Ile83Thr
XR_925948.1:n.812-28965A>G
XM_005248357.3:c.1232T>C	XP_005248414.1:p.Ile411Thr
XM_006714496.4:c.1232T>C	XP_006714559.1:p.Ile411Thr
XM_011514114.3:c.1232T>C	XP_011512416.1:p.Ile411Thr
XM_011514115.3:c.1205T>C	XP_011512417.1:p.Ile402Thr
XM_011514116.3:c.1205T>C	XP_011512418.1:p.Ile402Thr
XM_011514117.3:c.1205T>C	XP_011512419.1:p.Ile402Thr
XM_011514118.3:c.1205T>C	XP_011512420.1:p.Ile402Thr
XM_011514119.3:c.1232T>C	XP_011512421.1:p.Ile411Thr
XM_011514121.3:c.248T>C	XP_011512423.1:p.Ile83Thr
XM_017009818.2:c.1205T>C	XP_016865307.1:p.Ile402Thr
XM_017009819.2:c.761T>C	XP_016865308.1:p.Ile254Thr
NM_000065.4:c.1205T>C	NP_000056.2:p.Ile402Thr
NM_001115131.3:c.1205T>C	NP_001108603.2:p.Ile402Thr
NM_000065.5:c.1205T>C MANE Select	NP_000056.2:p.Ile402Thr
NM_001115131.4:c.1205T>C	NP_001108603.2:p.Ile402Thr