Canonical Allele Identifier: CA367637551

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2136543
• ClinVar RCV Id: RCV003060116
• dbSNP Id: rs1250112198
• gnomAD v2: 7-65426020-C-G
• gnomAD v3: 7-65961033-C-G
• gnomAD v4: 7-65961033-C-G
• MyVariant Identifiers: chr7:g.65426020C>G (hg19) ; chr7:g.65961033C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961033C>G , CM000669.2:g.65961033C>G	GRCh38
NC_000007.13:g.65426020C>G , CM000669.1:g.65426020C>G	GRCh37
NC_000007.12:g.65063455C>G	NCBI36
NG_016197.1:g.26282G>C
NG_051954.1:g.92935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1820G>C MANE Select	ENSP00000302728.4:p.Gly607Ala
ENST00000304895.8:c.1820G>C	ENSP00000302728.4:p.Gly607Ala
ENST00000421103.5:c.1382G>C	ENSP00000391390.1:p.Gly461Ala
ENST00000430730.5:c.*1087G>C	ENSP00000411859.1:n.*1087G>C
ENST00000447929.5:c.*1200G>C	ENSP00000411262.1:n.*1200G>C
ENST00000466883.5:n.2210G>C
NM_000181.3:c.1820G>C	NP_000172.2:p.Gly607Ala
NM_001284290.1:c.1382G>C	NP_001271219.1:p.Gly461Ala
NM_001293104.1:c.1250G>C	NP_001280033.1:p.Gly417Ala
NM_001293105.1:c.1163G>C	NP_001280034.1:p.Gly388Ala
NR_120531.1:n.1866G>C
XM_005250297.3:c.1667G>C	XP_005250354.1:p.Gly556Ala
XM_011516113.1:c.1319G>C	XP_011514415.1:p.Gly440Ala
XM_011516114.1:c.1148G>C	XP_011514416.1:p.Gly383Ala
XM_005250297.4:c.1667G>C	XP_005250354.1:p.Gly556Ala
XM_011516114.2:c.1148G>C	XP_011514416.1:p.Gly383Ala
XM_017012091.1:c.1166G>C	XP_016867580.1:p.Gly389Ala
XM_017012092.1:c.1097G>C	XP_016867581.1:p.Gly366Ala
XM_017012093.2:c.995G>C	XP_016867582.1:p.Gly332Ala
XR_001744658.2:n.1627G>C
XR_001744659.2:n.1740G>C
XR_001744660.2:n.1672G>C
XR_001744661.2:n.1587G>C
XR_927461.3:n.1825G>C
NM_000181.4:c.1820G>C MANE Select	NP_000172.2:p.Gly607Ala
NM_001284290.2:c.1382G>C	NP_001271219.1:p.Gly461Ala
NM_001293104.2:c.1250G>C	NP_001280033.1:p.Gly417Ala
NM_001293105.2:c.1163G>C	NP_001280034.1:p.Gly388Ala
NR_120531.2:n.1765G>C