Canonical Allele Identifier: CA367637716

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961060-G-T
• MyVariant Identifiers: chr7:g.65426047G>T (hg19) ; chr7:g.65961060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961060G>T , CM000669.2:g.65961060G>T	GRCh38
NC_000007.13:g.65426047G>T , CM000669.1:g.65426047G>T	GRCh37
NC_000007.12:g.65063482G>T	NCBI36
NG_016197.1:g.26255C>A
NG_051954.1:g.92962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1793C>A MANE Select	ENSP00000302728.4:p.Pro598Gln
ENST00000304895.8:c.1793C>A	ENSP00000302728.4:p.Pro598Gln
ENST00000421103.5:c.1355C>A	ENSP00000391390.1:p.Pro452Gln
ENST00000430730.5:c.*1060C>A	ENSP00000411859.1:n.*1060C>A
ENST00000447929.5:c.*1173C>A	ENSP00000411262.1:n.*1173C>A
ENST00000466883.5:n.2183C>A
NM_000181.3:c.1793C>A	NP_000172.2:p.Pro598Gln
NM_001284290.1:c.1355C>A	NP_001271219.1:p.Pro452Gln
NM_001293104.1:c.1223C>A	NP_001280033.1:p.Pro408Gln
NM_001293105.1:c.1136C>A	NP_001280034.1:p.Pro379Gln
NR_120531.1:n.1839C>A
XM_005250297.3:c.1640C>A	XP_005250354.1:p.Pro547Gln
XM_011516113.1:c.1292C>A	XP_011514415.1:p.Pro431Gln
XM_011516114.1:c.1121C>A	XP_011514416.1:p.Pro374Gln
XM_005250297.4:c.1640C>A	XP_005250354.1:p.Pro547Gln
XM_011516114.2:c.1121C>A	XP_011514416.1:p.Pro374Gln
XM_017012091.1:c.1139C>A	XP_016867580.1:p.Pro380Gln
XM_017012092.1:c.1070C>A	XP_016867581.1:p.Pro357Gln
XM_017012093.2:c.968C>A	XP_016867582.1:p.Pro323Gln
XR_001744658.2:n.1600C>A
XR_001744659.2:n.1713C>A
XR_001744660.2:n.1645C>A
XR_001744661.2:n.1560C>A
XR_927461.3:n.1798C>A
NM_000181.4:c.1793C>A MANE Select	NP_000172.2:p.Pro598Gln
NM_001284290.2:c.1355C>A	NP_001271219.1:p.Pro452Gln
NM_001293104.2:c.1223C>A	NP_001280033.1:p.Pro408Gln
NM_001293105.2:c.1136C>A	NP_001280034.1:p.Pro379Gln
NR_120531.2:n.1738C>A