Canonical Allele Identifier: CA367637451

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426002C>G (hg19) ; chr7:g.65961015C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961015C>G , CM000669.2:g.65961015C>G	GRCh38
NC_000007.13:g.65426002C>G , CM000669.1:g.65426002C>G	GRCh37
NC_000007.12:g.65063437C>G	NCBI36
NG_016197.1:g.26300G>C
NG_051954.1:g.92917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1838G>C MANE Select	ENSP00000302728.4:p.Arg613Thr
ENST00000304895.8:c.1838G>C	ENSP00000302728.4:p.Arg613Thr
ENST00000421103.5:c.1400G>C	ENSP00000391390.1:p.Arg467Thr
ENST00000430730.5:c.*1105G>C	ENSP00000411859.1:n.*1105G>C
ENST00000447929.5:c.*1218G>C	ENSP00000411262.1:n.*1218G>C
ENST00000466883.5:n.2228G>C
NM_000181.3:c.1838G>C	NP_000172.2:p.Arg613Thr
NM_001284290.1:c.1400G>C	NP_001271219.1:p.Arg467Thr
NM_001293104.1:c.1268G>C	NP_001280033.1:p.Arg423Thr
NM_001293105.1:c.1181G>C	NP_001280034.1:p.Arg394Thr
NR_120531.1:n.1884G>C
XM_005250297.3:c.1685G>C	XP_005250354.1:p.Arg562Thr
XM_011516113.1:c.1337G>C	XP_011514415.1:p.Arg446Thr
XM_011516114.1:c.1166G>C	XP_011514416.1:p.Arg389Thr
XM_005250297.4:c.1685G>C	XP_005250354.1:p.Arg562Thr
XM_011516114.2:c.1166G>C	XP_011514416.1:p.Arg389Thr
XM_017012091.1:c.1184G>C	XP_016867580.1:p.Arg395Thr
XM_017012092.1:c.1115G>C	XP_016867581.1:p.Arg372Thr
XM_017012093.2:c.1013G>C	XP_016867582.1:p.Arg338Thr
XR_001744658.2:n.1645G>C
XR_001744659.2:n.1758G>C
XR_001744660.2:n.1690G>C
XR_001744661.2:n.1605G>C
XR_927461.3:n.1843G>C
NM_000181.4:c.1838G>C MANE Select	NP_000172.2:p.Arg613Thr
NM_001284290.2:c.1400G>C	NP_001271219.1:p.Arg467Thr
NM_001293104.2:c.1268G>C	NP_001280033.1:p.Arg423Thr
NM_001293105.2:c.1181G>C	NP_001280034.1:p.Arg394Thr
NR_120531.2:n.1783G>C