Canonical Allele Identifier: CA367637055

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425917C>A (hg19) ; chr7:g.65960930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960930C>A , CM000669.2:g.65960930C>A	GRCh38
NC_000007.13:g.65425917C>A , CM000669.1:g.65425917C>A	GRCh37
NC_000007.12:g.65063352C>A	NCBI36
NG_016197.1:g.26385G>T
NG_051954.1:g.92832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1923G>T MANE Select	ENSP00000302728.4:p.Lys641Asn
ENST00000304895.8:c.1923G>T	ENSP00000302728.4:p.Lys641Asn
ENST00000421103.5:c.1485G>T	ENSP00000391390.1:p.Lys495Asn
ENST00000430730.5:c.*1190G>T	ENSP00000411859.1:n.*1190G>T
ENST00000447929.5:c.*1303G>T	ENSP00000411262.1:n.*1303G>T
ENST00000466883.5:n.2313G>T
NM_000181.3:c.1923G>T	NP_000172.2:p.Lys641Asn
NM_001284290.1:c.1485G>T	NP_001271219.1:p.Lys495Asn
NM_001293104.1:c.1353G>T	NP_001280033.1:p.Lys451Asn
NM_001293105.1:c.1266G>T	NP_001280034.1:p.Lys422Asn
NR_120531.1:n.1969G>T
XM_005250297.3:c.1770G>T	XP_005250354.1:p.Lys590Asn
XM_011516113.1:c.1422G>T	XP_011514415.1:p.Lys474Asn
XM_011516114.1:c.1251G>T	XP_011514416.1:p.Lys417Asn
XM_005250297.4:c.1770G>T	XP_005250354.1:p.Lys590Asn
XM_011516114.2:c.1251G>T	XP_011514416.1:p.Lys417Asn
XM_017012091.1:c.1269G>T	XP_016867580.1:p.Lys423Asn
XM_017012092.1:c.1200G>T	XP_016867581.1:p.Lys400Asn
XM_017012093.2:c.1098G>T	XP_016867582.1:p.Lys366Asn
XR_001744658.2:n.1730G>T
XR_001744659.2:n.1843G>T
XR_001744660.2:n.1775G>T
XR_001744661.2:n.1690G>T
XR_927461.3:n.1928G>T
NM_000181.4:c.1923G>T MANE Select	NP_000172.2:p.Lys641Asn
NM_001284290.2:c.1485G>T	NP_001271219.1:p.Lys495Asn
NM_001293104.2:c.1353G>T	NP_001280033.1:p.Lys451Asn
NM_001293105.2:c.1266G>T	NP_001280034.1:p.Lys422Asn
NR_120531.2:n.1868G>T