Canonical Allele Identifier: CA367637414

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961007-T-C
• MyVariant Identifiers: chr7:g.65425994T>C (hg19) ; chr7:g.65961007T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961007T>C , CM000669.2:g.65961007T>C	GRCh38
NC_000007.13:g.65425994T>C , CM000669.1:g.65425994T>C	GRCh37
NC_000007.12:g.65063429T>C	NCBI36
NG_016197.1:g.26308A>G
NG_051954.1:g.92909T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1846A>G MANE Select	ENSP00000302728.4:p.Lys616Glu
ENST00000304895.8:c.1846A>G	ENSP00000302728.4:p.Lys616Glu
ENST00000421103.5:c.1408A>G	ENSP00000391390.1:p.Lys470Glu
ENST00000430730.5:c.*1113A>G	ENSP00000411859.1:n.*1113A>G
ENST00000447929.5:c.*1226A>G	ENSP00000411262.1:n.*1226A>G
ENST00000466883.5:n.2236A>G
NM_000181.3:c.1846A>G	NP_000172.2:p.Lys616Glu
NM_001284290.1:c.1408A>G	NP_001271219.1:p.Lys470Glu
NM_001293104.1:c.1276A>G	NP_001280033.1:p.Lys426Glu
NM_001293105.1:c.1189A>G	NP_001280034.1:p.Lys397Glu
NR_120531.1:n.1892A>G
XM_005250297.3:c.1693A>G	XP_005250354.1:p.Lys565Glu
XM_011516113.1:c.1345A>G	XP_011514415.1:p.Lys449Glu
XM_011516114.1:c.1174A>G	XP_011514416.1:p.Lys392Glu
XM_005250297.4:c.1693A>G	XP_005250354.1:p.Lys565Glu
XM_011516114.2:c.1174A>G	XP_011514416.1:p.Lys392Glu
XM_017012091.1:c.1192A>G	XP_016867580.1:p.Lys398Glu
XM_017012092.1:c.1123A>G	XP_016867581.1:p.Lys375Glu
XM_017012093.2:c.1021A>G	XP_016867582.1:p.Lys341Glu
XR_001744658.2:n.1653A>G
XR_001744659.2:n.1766A>G
XR_001744660.2:n.1698A>G
XR_001744661.2:n.1613A>G
XR_927461.3:n.1851A>G
NM_000181.4:c.1846A>G MANE Select	NP_000172.2:p.Lys616Glu
NM_001284290.2:c.1408A>G	NP_001271219.1:p.Lys470Glu
NM_001293104.2:c.1276A>G	NP_001280033.1:p.Lys426Glu
NM_001293105.2:c.1189A>G	NP_001280034.1:p.Lys397Glu
NR_120531.2:n.1791A>G