Canonical Allele Identifier: CA367637641

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426032C>G (hg19) ; chr7:g.65961045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961045C>G , CM000669.2:g.65961045C>G	GRCh38
NC_000007.13:g.65426032C>G , CM000669.1:g.65426032C>G	GRCh37
NC_000007.12:g.65063467C>G	NCBI36
NG_016197.1:g.26270G>C
NG_051954.1:g.92947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1808G>C MANE Select	ENSP00000302728.4:p.Gly603Ala
ENST00000304895.8:c.1808G>C	ENSP00000302728.4:p.Gly603Ala
ENST00000421103.5:c.1370G>C	ENSP00000391390.1:p.Gly457Ala
ENST00000430730.5:c.*1075G>C	ENSP00000411859.1:n.*1075G>C
ENST00000447929.5:c.*1188G>C	ENSP00000411262.1:n.*1188G>C
ENST00000466883.5:n.2198G>C
NM_000181.3:c.1808G>C	NP_000172.2:p.Gly603Ala
NM_001284290.1:c.1370G>C	NP_001271219.1:p.Gly457Ala
NM_001293104.1:c.1238G>C	NP_001280033.1:p.Gly413Ala
NM_001293105.1:c.1151G>C	NP_001280034.1:p.Gly384Ala
NR_120531.1:n.1854G>C
XM_005250297.3:c.1655G>C	XP_005250354.1:p.Gly552Ala
XM_011516113.1:c.1307G>C	XP_011514415.1:p.Gly436Ala
XM_011516114.1:c.1136G>C	XP_011514416.1:p.Gly379Ala
XM_005250297.4:c.1655G>C	XP_005250354.1:p.Gly552Ala
XM_011516114.2:c.1136G>C	XP_011514416.1:p.Gly379Ala
XM_017012091.1:c.1154G>C	XP_016867580.1:p.Gly385Ala
XM_017012092.1:c.1085G>C	XP_016867581.1:p.Gly362Ala
XM_017012093.2:c.983G>C	XP_016867582.1:p.Gly328Ala
XR_001744658.2:n.1615G>C
XR_001744659.2:n.1728G>C
XR_001744660.2:n.1660G>C
XR_001744661.2:n.1575G>C
XR_927461.3:n.1813G>C
NM_000181.4:c.1808G>C MANE Select	NP_000172.2:p.Gly603Ala
NM_001284290.2:c.1370G>C	NP_001271219.1:p.Gly457Ala
NM_001293104.2:c.1238G>C	NP_001280033.1:p.Gly413Ala
NM_001293105.2:c.1151G>C	NP_001280034.1:p.Gly384Ala
NR_120531.2:n.1753G>C