Canonical Allele Identifier: CA367637709

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961058-T-G
• MyVariant Identifiers: chr7:g.65426045T>G (hg19) ; chr7:g.65961058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961058T>G , CM000669.2:g.65961058T>G	GRCh38
NC_000007.13:g.65426045T>G , CM000669.1:g.65426045T>G	GRCh37
NC_000007.12:g.65063480T>G	NCBI36
NG_016197.1:g.26257A>C
NG_051954.1:g.92960T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1795A>C MANE Select	ENSP00000302728.4:p.Thr599Pro
ENST00000304895.8:c.1795A>C	ENSP00000302728.4:p.Thr599Pro
ENST00000421103.5:c.1357A>C	ENSP00000391390.1:p.Thr453Pro
ENST00000430730.5:c.*1062A>C	ENSP00000411859.1:n.*1062A>C
ENST00000447929.5:c.*1175A>C	ENSP00000411262.1:n.*1175A>C
ENST00000466883.5:n.2185A>C
NM_000181.3:c.1795A>C	NP_000172.2:p.Thr599Pro
NM_001284290.1:c.1357A>C	NP_001271219.1:p.Thr453Pro
NM_001293104.1:c.1225A>C	NP_001280033.1:p.Thr409Pro
NM_001293105.1:c.1138A>C	NP_001280034.1:p.Thr380Pro
NR_120531.1:n.1841A>C
XM_005250297.3:c.1642A>C	XP_005250354.1:p.Thr548Pro
XM_011516113.1:c.1294A>C	XP_011514415.1:p.Thr432Pro
XM_011516114.1:c.1123A>C	XP_011514416.1:p.Thr375Pro
XM_005250297.4:c.1642A>C	XP_005250354.1:p.Thr548Pro
XM_011516114.2:c.1123A>C	XP_011514416.1:p.Thr375Pro
XM_017012091.1:c.1141A>C	XP_016867580.1:p.Thr381Pro
XM_017012092.1:c.1072A>C	XP_016867581.1:p.Thr358Pro
XM_017012093.2:c.970A>C	XP_016867582.1:p.Thr324Pro
XR_001744658.2:n.1602A>C
XR_001744659.2:n.1715A>C
XR_001744660.2:n.1647A>C
XR_001744661.2:n.1562A>C
XR_927461.3:n.1800A>C
NM_000181.4:c.1795A>C MANE Select	NP_000172.2:p.Thr599Pro
NM_001284290.2:c.1357A>C	NP_001271219.1:p.Thr453Pro
NM_001293104.2:c.1225A>C	NP_001280033.1:p.Thr409Pro
NM_001293105.2:c.1138A>C	NP_001280034.1:p.Thr380Pro
NR_120531.2:n.1740A>C