Canonical Allele Identifier: CA367637245

Gene: GUSB

Linked Data

• dbSNP Id: rs1236992554
• gnomAD v3: 7-65960973-C-A
• gnomAD v4: 7-65960973-C-A
• MyVariant Identifiers: chr7:g.65425960C>A (hg19) ; chr7:g.65960973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960973C>A , CM000669.2:g.65960973C>A	GRCh38
NC_000007.13:g.65425960C>A , CM000669.1:g.65425960C>A	GRCh37
NC_000007.12:g.65063395C>A	NCBI36
NG_016197.1:g.26342G>T
NG_051954.1:g.92875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1880G>T MANE Select	ENSP00000302728.4:p.Trp627Leu
ENST00000304895.8:c.1880G>T	ENSP00000302728.4:p.Trp627Leu
ENST00000421103.5:c.1442G>T	ENSP00000391390.1:p.Trp481Leu
ENST00000430730.5:c.*1147G>T	ENSP00000411859.1:n.*1147G>T
ENST00000447929.5:c.*1260G>T	ENSP00000411262.1:n.*1260G>T
ENST00000466883.5:n.2270G>T
NM_000181.3:c.1880G>T	NP_000172.2:p.Trp627Leu
NM_001284290.1:c.1442G>T	NP_001271219.1:p.Trp481Leu
NM_001293104.1:c.1310G>T	NP_001280033.1:p.Trp437Leu
NM_001293105.1:c.1223G>T	NP_001280034.1:p.Trp408Leu
NR_120531.1:n.1926G>T
XM_005250297.3:c.1727G>T	XP_005250354.1:p.Trp576Leu
XM_011516113.1:c.1379G>T	XP_011514415.1:p.Trp460Leu
XM_011516114.1:c.1208G>T	XP_011514416.1:p.Trp403Leu
XM_005250297.4:c.1727G>T	XP_005250354.1:p.Trp576Leu
XM_011516114.2:c.1208G>T	XP_011514416.1:p.Trp403Leu
XM_017012091.1:c.1226G>T	XP_016867580.1:p.Trp409Leu
XM_017012092.1:c.1157G>T	XP_016867581.1:p.Trp386Leu
XM_017012093.2:c.1055G>T	XP_016867582.1:p.Trp352Leu
XR_001744658.2:n.1687G>T
XR_001744659.2:n.1800G>T
XR_001744660.2:n.1732G>T
XR_001744661.2:n.1647G>T
XR_927461.3:n.1885G>T
NM_000181.4:c.1880G>T MANE Select	NP_000172.2:p.Trp627Leu
NM_001284290.2:c.1442G>T	NP_001271219.1:p.Trp481Leu
NM_001293104.2:c.1310G>T	NP_001280033.1:p.Trp437Leu
NM_001293105.2:c.1223G>T	NP_001280034.1:p.Trp408Leu
NR_120531.2:n.1825G>T