Canonical Allele Identifier: CA367637236

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425958T>G (hg19) ; chr7:g.65960971T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960971T>G , CM000669.2:g.65960971T>G	GRCh38
NC_000007.13:g.65425958T>G , CM000669.1:g.65425958T>G	GRCh37
NC_000007.12:g.65063393T>G	NCBI36
NG_016197.1:g.26344A>C
NG_051954.1:g.92873T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1882A>C MANE Select	ENSP00000302728.4:p.Lys628Gln
ENST00000304895.8:c.1882A>C	ENSP00000302728.4:p.Lys628Gln
ENST00000421103.5:c.1444A>C	ENSP00000391390.1:p.Lys482Gln
ENST00000430730.5:c.*1149A>C	ENSP00000411859.1:n.*1149A>C
ENST00000447929.5:c.*1262A>C	ENSP00000411262.1:n.*1262A>C
ENST00000466883.5:n.2272A>C
NM_000181.3:c.1882A>C	NP_000172.2:p.Lys628Gln
NM_001284290.1:c.1444A>C	NP_001271219.1:p.Lys482Gln
NM_001293104.1:c.1312A>C	NP_001280033.1:p.Lys438Gln
NM_001293105.1:c.1225A>C	NP_001280034.1:p.Lys409Gln
NR_120531.1:n.1928A>C
XM_005250297.3:c.1729A>C	XP_005250354.1:p.Lys577Gln
XM_011516113.1:c.1381A>C	XP_011514415.1:p.Lys461Gln
XM_011516114.1:c.1210A>C	XP_011514416.1:p.Lys404Gln
XM_005250297.4:c.1729A>C	XP_005250354.1:p.Lys577Gln
XM_011516114.2:c.1210A>C	XP_011514416.1:p.Lys404Gln
XM_017012091.1:c.1228A>C	XP_016867580.1:p.Lys410Gln
XM_017012092.1:c.1159A>C	XP_016867581.1:p.Lys387Gln
XM_017012093.2:c.1057A>C	XP_016867582.1:p.Lys353Gln
XR_001744658.2:n.1689A>C
XR_001744659.2:n.1802A>C
XR_001744660.2:n.1734A>C
XR_001744661.2:n.1649A>C
XR_927461.3:n.1887A>C
NM_000181.4:c.1882A>C MANE Select	NP_000172.2:p.Lys628Gln
NM_001284290.2:c.1444A>C	NP_001271219.1:p.Lys482Gln
NM_001293104.2:c.1312A>C	NP_001280033.1:p.Lys438Gln
NM_001293105.2:c.1225A>C	NP_001280034.1:p.Lys409Gln
NR_120531.2:n.1827A>C