Canonical Allele Identifier: CA339841

Gene: GUSB

Linked Data

• ClinVar Variation Id: 897
• ClinVar RCV Id: RCV000000945
• dbSNP Id: rs121918176
• ExAC: 7:65426009 G / A
• gnomAD v2: 7-65426009-G-A
• gnomAD v3: 7-65961022-G-A
• gnomAD v4: 7-65961022-G-A
• MyVariant Identifiers: chr7:g.65426009G>A (hg19) ; chr7:g.65961022G>A (hg38)
• PubMed: PMID:8111413

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961022G>A , CM000669.2:g.65961022G>A	GRCh38
NC_000007.13:g.65426009G>A , CM000669.1:g.65426009G>A	GRCh37
NC_000007.12:g.65063444G>A	NCBI36
NG_016197.1:g.26293C>T
NG_051954.1:g.92924G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1831C>T MANE Select	ENSP00000302728.4:p.Arg611Trp
ENST00000304895.8:c.1831C>T	ENSP00000302728.4:p.Arg611Trp
ENST00000421103.5:c.1393C>T	ENSP00000391390.1:p.Arg465Trp
ENST00000430730.5:c.*1098C>T	ENSP00000411859.1:n.*1098C>T
ENST00000447929.5:c.*1211C>T	ENSP00000411262.1:n.*1211C>T
ENST00000466883.5:n.2221C>T
NM_000181.3:c.1831C>T	NP_000172.2:p.Arg611Trp
NM_001284290.1:c.1393C>T	NP_001271219.1:p.Arg465Trp
NM_001293104.1:c.1261C>T	NP_001280033.1:p.Arg421Trp
NM_001293105.1:c.1174C>T	NP_001280034.1:p.Arg392Trp
NR_120531.1:n.1877C>T
XM_005250297.3:c.1678C>T	XP_005250354.1:p.Arg560Trp
XM_011516113.1:c.1330C>T	XP_011514415.1:p.Arg444Trp
XM_011516114.1:c.1159C>T	XP_011514416.1:p.Arg387Trp
XM_005250297.4:c.1678C>T	XP_005250354.1:p.Arg560Trp
XM_011516114.2:c.1159C>T	XP_011514416.1:p.Arg387Trp
XM_017012091.1:c.1177C>T	XP_016867580.1:p.Arg393Trp
XM_017012092.1:c.1108C>T	XP_016867581.1:p.Arg370Trp
XM_017012093.2:c.1006C>T	XP_016867582.1:p.Arg336Trp
XR_001744658.2:n.1638C>T
XR_001744659.2:n.1751C>T
XR_001744660.2:n.1683C>T
XR_001744661.2:n.1598C>T
XR_927461.3:n.1836C>T
NM_000181.4:c.1831C>T MANE Select	NP_000172.2:p.Arg611Trp
NM_001284290.2:c.1393C>T	NP_001271219.1:p.Arg465Trp
NM_001293104.2:c.1261C>T	NP_001280033.1:p.Arg421Trp
NM_001293105.2:c.1174C>T	NP_001280034.1:p.Arg392Trp
NR_120531.2:n.1776C>T