Canonical Allele Identifier: CA367637270

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425965T>G (hg19) ; chr7:g.65960978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960978T>G , CM000669.2:g.65960978T>G	GRCh38
NC_000007.13:g.65425965T>G , CM000669.1:g.65425965T>G	GRCh37
NC_000007.12:g.65063400T>G	NCBI36
NG_016197.1:g.26337A>C
NG_051954.1:g.92880T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1875A>C MANE Select	ENSP00000302728.4:p.Arg625Ser
ENST00000304895.8:c.1875A>C	ENSP00000302728.4:p.Arg625Ser
ENST00000421103.5:c.1437A>C	ENSP00000391390.1:p.Arg479Ser
ENST00000430730.5:c.*1142A>C	ENSP00000411859.1:n.*1142A>C
ENST00000447929.5:c.*1255A>C	ENSP00000411262.1:n.*1255A>C
ENST00000466883.5:n.2265A>C
NM_000181.3:c.1875A>C	NP_000172.2:p.Arg625Ser
NM_001284290.1:c.1437A>C	NP_001271219.1:p.Arg479Ser
NM_001293104.1:c.1305A>C	NP_001280033.1:p.Arg435Ser
NM_001293105.1:c.1218A>C	NP_001280034.1:p.Arg406Ser
NR_120531.1:n.1921A>C
XM_005250297.3:c.1722A>C	XP_005250354.1:p.Arg574Ser
XM_011516113.1:c.1374A>C	XP_011514415.1:p.Arg458Ser
XM_011516114.1:c.1203A>C	XP_011514416.1:p.Arg401Ser
XM_005250297.4:c.1722A>C	XP_005250354.1:p.Arg574Ser
XM_011516114.2:c.1203A>C	XP_011514416.1:p.Arg401Ser
XM_017012091.1:c.1221A>C	XP_016867580.1:p.Arg407Ser
XM_017012092.1:c.1152A>C	XP_016867581.1:p.Arg384Ser
XM_017012093.2:c.1050A>C	XP_016867582.1:p.Arg350Ser
XR_001744658.2:n.1682A>C
XR_001744659.2:n.1795A>C
XR_001744660.2:n.1727A>C
XR_001744661.2:n.1642A>C
XR_927461.3:n.1880A>C
NM_000181.4:c.1875A>C MANE Select	NP_000172.2:p.Arg625Ser
NM_001284290.2:c.1437A>C	NP_001271219.1:p.Arg479Ser
NM_001293104.2:c.1305A>C	NP_001280033.1:p.Arg435Ser
NM_001293105.2:c.1218A>C	NP_001280034.1:p.Arg406Ser
NR_120531.2:n.1820A>C