Canonical Allele Identifier: CA367637171

Gene: GUSB

Linked Data

• dbSNP Id: rs1583879538
• MyVariant Identifiers: chr7:g.65425943T>G (hg19) ; chr7:g.65960956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960956T>G , CM000669.2:g.65960956T>G	GRCh38
NC_000007.13:g.65425943T>G , CM000669.1:g.65425943T>G	GRCh37
NC_000007.12:g.65063378T>G	NCBI36
NG_016197.1:g.26359A>C
NG_051954.1:g.92858T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1897A>C MANE Select	ENSP00000302728.4:p.Thr633Pro
ENST00000304895.8:c.1897A>C	ENSP00000302728.4:p.Thr633Pro
ENST00000421103.5:c.1459A>C	ENSP00000391390.1:p.Thr487Pro
ENST00000430730.5:c.*1164A>C	ENSP00000411859.1:n.*1164A>C
ENST00000447929.5:c.*1277A>C	ENSP00000411262.1:n.*1277A>C
ENST00000466883.5:n.2287A>C
NM_000181.3:c.1897A>C	NP_000172.2:p.Thr633Pro
NM_001284290.1:c.1459A>C	NP_001271219.1:p.Thr487Pro
NM_001293104.1:c.1327A>C	NP_001280033.1:p.Thr443Pro
NM_001293105.1:c.1240A>C	NP_001280034.1:p.Thr414Pro
NR_120531.1:n.1943A>C
XM_005250297.3:c.1744A>C	XP_005250354.1:p.Thr582Pro
XM_011516113.1:c.1396A>C	XP_011514415.1:p.Thr466Pro
XM_011516114.1:c.1225A>C	XP_011514416.1:p.Thr409Pro
XM_005250297.4:c.1744A>C	XP_005250354.1:p.Thr582Pro
XM_011516114.2:c.1225A>C	XP_011514416.1:p.Thr409Pro
XM_017012091.1:c.1243A>C	XP_016867580.1:p.Thr415Pro
XM_017012092.1:c.1174A>C	XP_016867581.1:p.Thr392Pro
XM_017012093.2:c.1072A>C	XP_016867582.1:p.Thr358Pro
XR_001744658.2:n.1704A>C
XR_001744659.2:n.1817A>C
XR_001744660.2:n.1749A>C
XR_001744661.2:n.1664A>C
XR_927461.3:n.1902A>C
NM_000181.4:c.1897A>C MANE Select	NP_000172.2:p.Thr633Pro
NM_001284290.2:c.1459A>C	NP_001271219.1:p.Thr487Pro
NM_001293104.2:c.1327A>C	NP_001280033.1:p.Thr443Pro
NM_001293105.2:c.1240A>C	NP_001280034.1:p.Thr414Pro
NR_120531.2:n.1842A>C