Canonical Allele Identifier: CA367637522

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426017A>C (hg19) ; chr7:g.65961030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961030A>C , CM000669.2:g.65961030A>C	GRCh38
NC_000007.13:g.65426017A>C , CM000669.1:g.65426017A>C	GRCh37
NC_000007.12:g.65063452A>C	NCBI36
NG_016197.1:g.26285T>G
NG_051954.1:g.92932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1823T>G MANE Select	ENSP00000302728.4:p.Ile608Ser
ENST00000304895.8:c.1823T>G	ENSP00000302728.4:p.Ile608Ser
ENST00000421103.5:c.1385T>G	ENSP00000391390.1:p.Ile462Ser
ENST00000430730.5:c.*1090T>G	ENSP00000411859.1:n.*1090T>G
ENST00000447929.5:c.*1203T>G	ENSP00000411262.1:n.*1203T>G
ENST00000466883.5:n.2213T>G
NM_000181.3:c.1823T>G	NP_000172.2:p.Ile608Ser
NM_001284290.1:c.1385T>G	NP_001271219.1:p.Ile462Ser
NM_001293104.1:c.1253T>G	NP_001280033.1:p.Ile418Ser
NM_001293105.1:c.1166T>G	NP_001280034.1:p.Ile389Ser
NR_120531.1:n.1869T>G
XM_005250297.3:c.1670T>G	XP_005250354.1:p.Ile557Ser
XM_011516113.1:c.1322T>G	XP_011514415.1:p.Ile441Ser
XM_011516114.1:c.1151T>G	XP_011514416.1:p.Ile384Ser
XM_005250297.4:c.1670T>G	XP_005250354.1:p.Ile557Ser
XM_011516114.2:c.1151T>G	XP_011514416.1:p.Ile384Ser
XM_017012091.1:c.1169T>G	XP_016867580.1:p.Ile390Ser
XM_017012092.1:c.1100T>G	XP_016867581.1:p.Ile367Ser
XM_017012093.2:c.998T>G	XP_016867582.1:p.Ile333Ser
XR_001744658.2:n.1630T>G
XR_001744659.2:n.1743T>G
XR_001744660.2:n.1675T>G
XR_001744661.2:n.1590T>G
XR_927461.3:n.1828T>G
NM_000181.4:c.1823T>G MANE Select	NP_000172.2:p.Ile608Ser
NM_001284290.2:c.1385T>G	NP_001271219.1:p.Ile462Ser
NM_001293104.2:c.1253T>G	NP_001280033.1:p.Ile418Ser
NM_001293105.2:c.1166T>G	NP_001280034.1:p.Ile389Ser
NR_120531.2:n.1768T>G