Canonical Allele Identifier: CA367637598

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426026T>G (hg19) ; chr7:g.65961039T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961039T>G , CM000669.2:g.65961039T>G	GRCh38
NC_000007.13:g.65426026T>G , CM000669.1:g.65426026T>G	GRCh37
NC_000007.12:g.65063461T>G	NCBI36
NG_016197.1:g.26276A>C
NG_051954.1:g.92941T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1814A>C MANE Select	ENSP00000302728.4:p.Lys605Thr
ENST00000304895.8:c.1814A>C	ENSP00000302728.4:p.Lys605Thr
ENST00000421103.5:c.1376A>C	ENSP00000391390.1:p.Lys459Thr
ENST00000430730.5:c.*1081A>C	ENSP00000411859.1:n.*1081A>C
ENST00000447929.5:c.*1194A>C	ENSP00000411262.1:n.*1194A>C
ENST00000466883.5:n.2204A>C
NM_000181.3:c.1814A>C	NP_000172.2:p.Lys605Thr
NM_001284290.1:c.1376A>C	NP_001271219.1:p.Lys459Thr
NM_001293104.1:c.1244A>C	NP_001280033.1:p.Lys415Thr
NM_001293105.1:c.1157A>C	NP_001280034.1:p.Lys386Thr
NR_120531.1:n.1860A>C
XM_005250297.3:c.1661A>C	XP_005250354.1:p.Lys554Thr
XM_011516113.1:c.1313A>C	XP_011514415.1:p.Lys438Thr
XM_011516114.1:c.1142A>C	XP_011514416.1:p.Lys381Thr
XM_005250297.4:c.1661A>C	XP_005250354.1:p.Lys554Thr
XM_011516114.2:c.1142A>C	XP_011514416.1:p.Lys381Thr
XM_017012091.1:c.1160A>C	XP_016867580.1:p.Lys387Thr
XM_017012092.1:c.1091A>C	XP_016867581.1:p.Lys364Thr
XM_017012093.2:c.989A>C	XP_016867582.1:p.Lys330Thr
XR_001744658.2:n.1621A>C
XR_001744659.2:n.1734A>C
XR_001744660.2:n.1666A>C
XR_001744661.2:n.1581A>C
XR_927461.3:n.1819A>C
NM_000181.4:c.1814A>C MANE Select	NP_000172.2:p.Lys605Thr
NM_001284290.2:c.1376A>C	NP_001271219.1:p.Lys459Thr
NM_001293104.2:c.1244A>C	NP_001280033.1:p.Lys415Thr
NM_001293105.2:c.1157A>C	NP_001280034.1:p.Lys386Thr
NR_120531.2:n.1759A>C