Canonical Allele Identifier: CA367637718

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961061-G-A
• MyVariant Identifiers: chr7:g.65426048G>A (hg19) ; chr7:g.65961061G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961061G>A , CM000669.2:g.65961061G>A	GRCh38
NC_000007.13:g.65426048G>A , CM000669.1:g.65426048G>A	GRCh37
NC_000007.12:g.65063483G>A	NCBI36
NG_016197.1:g.26254C>T
NG_051954.1:g.92963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1792C>T MANE Select	ENSP00000302728.4:p.Pro598Ser
ENST00000304895.8:c.1792C>T	ENSP00000302728.4:p.Pro598Ser
ENST00000421103.5:c.1354C>T	ENSP00000391390.1:p.Pro452Ser
ENST00000430730.5:c.*1059C>T	ENSP00000411859.1:n.*1059C>T
ENST00000447929.5:c.*1172C>T	ENSP00000411262.1:n.*1172C>T
ENST00000466883.5:n.2182C>T
NM_000181.3:c.1792C>T	NP_000172.2:p.Pro598Ser
NM_001284290.1:c.1354C>T	NP_001271219.1:p.Pro452Ser
NM_001293104.1:c.1222C>T	NP_001280033.1:p.Pro408Ser
NM_001293105.1:c.1135C>T	NP_001280034.1:p.Pro379Ser
NR_120531.1:n.1838C>T
XM_005250297.3:c.1639C>T	XP_005250354.1:p.Pro547Ser
XM_011516113.1:c.1291C>T	XP_011514415.1:p.Pro431Ser
XM_011516114.1:c.1120C>T	XP_011514416.1:p.Pro374Ser
XM_005250297.4:c.1639C>T	XP_005250354.1:p.Pro547Ser
XM_011516114.2:c.1120C>T	XP_011514416.1:p.Pro374Ser
XM_017012091.1:c.1138C>T	XP_016867580.1:p.Pro380Ser
XM_017012092.1:c.1069C>T	XP_016867581.1:p.Pro357Ser
XM_017012093.2:c.967C>T	XP_016867582.1:p.Pro323Ser
XR_001744658.2:n.1599C>T
XR_001744659.2:n.1712C>T
XR_001744660.2:n.1644C>T
XR_001744661.2:n.1559C>T
XR_927461.3:n.1797C>T
NM_000181.4:c.1792C>T MANE Select	NP_000172.2:p.Pro598Ser
NM_001284290.2:c.1354C>T	NP_001271219.1:p.Pro452Ser
NM_001293104.2:c.1222C>T	NP_001280033.1:p.Pro408Ser
NM_001293105.2:c.1135C>T	NP_001280034.1:p.Pro379Ser
NR_120531.2:n.1737C>T