Canonical Allele Identifier: CA367637225

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425956C>G (hg19) ; chr7:g.65960969C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960969C>G , CM000669.2:g.65960969C>G	GRCh38
NC_000007.13:g.65425956C>G , CM000669.1:g.65425956C>G	GRCh37
NC_000007.12:g.65063391C>G	NCBI36
NG_016197.1:g.26346G>C
NG_051954.1:g.92871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1884G>C MANE Select	ENSP00000302728.4:p.Lys628Asn
ENST00000304895.8:c.1884G>C	ENSP00000302728.4:p.Lys628Asn
ENST00000421103.5:c.1446G>C	ENSP00000391390.1:p.Lys482Asn
ENST00000430730.5:c.*1151G>C	ENSP00000411859.1:n.*1151G>C
ENST00000447929.5:c.*1264G>C	ENSP00000411262.1:n.*1264G>C
ENST00000466883.5:n.2274G>C
NM_000181.3:c.1884G>C	NP_000172.2:p.Lys628Asn
NM_001284290.1:c.1446G>C	NP_001271219.1:p.Lys482Asn
NM_001293104.1:c.1314G>C	NP_001280033.1:p.Lys438Asn
NM_001293105.1:c.1227G>C	NP_001280034.1:p.Lys409Asn
NR_120531.1:n.1930G>C
XM_005250297.3:c.1731G>C	XP_005250354.1:p.Lys577Asn
XM_011516113.1:c.1383G>C	XP_011514415.1:p.Lys461Asn
XM_011516114.1:c.1212G>C	XP_011514416.1:p.Lys404Asn
XM_005250297.4:c.1731G>C	XP_005250354.1:p.Lys577Asn
XM_011516114.2:c.1212G>C	XP_011514416.1:p.Lys404Asn
XM_017012091.1:c.1230G>C	XP_016867580.1:p.Lys410Asn
XM_017012092.1:c.1161G>C	XP_016867581.1:p.Lys387Asn
XM_017012093.2:c.1059G>C	XP_016867582.1:p.Lys353Asn
XR_001744658.2:n.1691G>C
XR_001744659.2:n.1804G>C
XR_001744660.2:n.1736G>C
XR_001744661.2:n.1651G>C
XR_927461.3:n.1889G>C
NM_000181.4:c.1884G>C MANE Select	NP_000172.2:p.Lys628Asn
NM_001284290.2:c.1446G>C	NP_001271219.1:p.Lys482Asn
NM_001293104.2:c.1314G>C	NP_001280033.1:p.Lys438Asn
NM_001293105.2:c.1227G>C	NP_001280034.1:p.Lys409Asn
NR_120531.2:n.1829G>C