Canonical Allele Identifier: CA367639922

Gene: GUSB

Linked Data

• dbSNP Id: rs1450743730
• gnomAD v2: 7-65432767-G-A
• gnomAD v4: 7-65967780-G-A
• MyVariant Identifiers: chr7:g.65432767G>A (hg19) ; chr7:g.65967780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967780G>A , CM000669.2:g.65967780G>A	GRCh38
NC_000007.13:g.65432767G>A , CM000669.1:g.65432767G>A	GRCh37
NC_000007.12:g.65070202G>A	NCBI36
NG_016197.1:g.19535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1604C>T MANE Select	ENSP00000302728.4:p.Pro535Leu
ENST00000304895.8:c.1604C>T	ENSP00000302728.4:p.Pro535Leu
ENST00000421103.5:c.1166C>T	ENSP00000391390.1:p.Pro389Leu
ENST00000430730.5:c.*871C>T	ENSP00000411859.1:n.*871C>T
ENST00000447929.5:c.*984C>T	ENSP00000411262.1:n.*984C>T
ENST00000461622.1:n.129C>T
ENST00000462371.1:n.642C>T
ENST00000466883.5:n.1994C>T
NM_000181.3:c.1604C>T	NP_000172.2:p.Pro535Leu
NM_001284290.1:c.1166C>T	NP_001271219.1:p.Pro389Leu
NM_001293104.1:c.1034C>T	NP_001280033.1:p.Pro345Leu
NM_001293105.1:c.947C>T	NP_001280034.1:p.Pro316Leu
NR_120531.1:n.1650C>T
XM_005250297.3:c.1451C>T	XP_005250354.1:p.Pro484Leu
XM_011516113.1:c.1103C>T	XP_011514415.1:p.Pro368Leu
XM_011516114.1:c.932C>T	XP_011514416.1:p.Pro311Leu
XR_927461.1:n.1690C>T
XM_005250297.4:c.1451C>T	XP_005250354.1:p.Pro484Leu
XM_011516114.2:c.932C>T	XP_011514416.1:p.Pro311Leu
XM_017012091.1:c.950C>T	XP_016867580.1:p.Pro317Leu
XM_017012092.1:c.881C>T	XP_016867581.1:p.Pro294Leu
XM_017012093.2:c.779C>T	XP_016867582.1:p.Pro260Leu
XR_001744658.2:n.1411C>T
XR_001744659.2:n.1524C>T
XR_001744660.2:n.1456C>T
XR_001744661.2:n.1371C>T
XR_927461.3:n.1609C>T
NM_000181.4:c.1604C>T MANE Select	NP_000172.2:p.Pro535Leu
NM_001284290.2:c.1166C>T	NP_001271219.1:p.Pro389Leu
NM_001293104.2:c.1034C>T	NP_001280033.1:p.Pro345Leu
NM_001293105.2:c.947C>T	NP_001280034.1:p.Pro316Leu
NR_120531.2:n.1549C>T