Canonical Allele Identifier: CA367637360

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425985C>T (hg19) ; chr7:g.65960998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960998C>T , CM000669.2:g.65960998C>T	GRCh38
NC_000007.13:g.65425985C>T , CM000669.1:g.65425985C>T	GRCh37
NC_000007.12:g.65063420C>T	NCBI36
NG_016197.1:g.26317G>A
NG_051954.1:g.92900C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1855G>A MANE Select	ENSP00000302728.4:p.Ala619Thr
ENST00000304895.8:c.1855G>A	ENSP00000302728.4:p.Ala619Thr
ENST00000421103.5:c.1417G>A	ENSP00000391390.1:p.Ala473Thr
ENST00000430730.5:c.*1122G>A	ENSP00000411859.1:n.*1122G>A
ENST00000447929.5:c.*1235G>A	ENSP00000411262.1:n.*1235G>A
ENST00000466883.5:n.2245G>A
NM_000181.3:c.1855G>A	NP_000172.2:p.Ala619Thr
NM_001284290.1:c.1417G>A	NP_001271219.1:p.Ala473Thr
NM_001293104.1:c.1285G>A	NP_001280033.1:p.Ala429Thr
NM_001293105.1:c.1198G>A	NP_001280034.1:p.Ala400Thr
NR_120531.1:n.1901G>A
XM_005250297.3:c.1702G>A	XP_005250354.1:p.Ala568Thr
XM_011516113.1:c.1354G>A	XP_011514415.1:p.Ala452Thr
XM_011516114.1:c.1183G>A	XP_011514416.1:p.Ala395Thr
XM_005250297.4:c.1702G>A	XP_005250354.1:p.Ala568Thr
XM_011516114.2:c.1183G>A	XP_011514416.1:p.Ala395Thr
XM_017012091.1:c.1201G>A	XP_016867580.1:p.Ala401Thr
XM_017012092.1:c.1132G>A	XP_016867581.1:p.Ala378Thr
XM_017012093.2:c.1030G>A	XP_016867582.1:p.Ala344Thr
XR_001744658.2:n.1662G>A
XR_001744659.2:n.1775G>A
XR_001744660.2:n.1707G>A
XR_001744661.2:n.1622G>A
XR_927461.3:n.1860G>A
NM_000181.4:c.1855G>A MANE Select	NP_000172.2:p.Ala619Thr
NM_001284290.2:c.1417G>A	NP_001271219.1:p.Ala473Thr
NM_001293104.2:c.1285G>A	NP_001280033.1:p.Ala429Thr
NM_001293105.2:c.1198G>A	NP_001280034.1:p.Ala400Thr
NR_120531.2:n.1800G>A