Canonical Allele Identifier: CA367637093

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425927G>A (hg19) ; chr7:g.65960940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960940G>A , CM000669.2:g.65960940G>A	GRCh38
NC_000007.13:g.65425927G>A , CM000669.1:g.65425927G>A	GRCh37
NC_000007.12:g.65063362G>A	NCBI36
NG_016197.1:g.26375C>T
NG_051954.1:g.92842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1913C>T MANE Select	ENSP00000302728.4:p.Ser638Leu
ENST00000304895.8:c.1913C>T	ENSP00000302728.4:p.Ser638Leu
ENST00000421103.5:c.1475C>T	ENSP00000391390.1:p.Ser492Leu
ENST00000430730.5:c.*1180C>T	ENSP00000411859.1:n.*1180C>T
ENST00000447929.5:c.*1293C>T	ENSP00000411262.1:n.*1293C>T
ENST00000466883.5:n.2303C>T
NM_000181.3:c.1913C>T	NP_000172.2:p.Ser638Leu
NM_001284290.1:c.1475C>T	NP_001271219.1:p.Ser492Leu
NM_001293104.1:c.1343C>T	NP_001280033.1:p.Ser448Leu
NM_001293105.1:c.1256C>T	NP_001280034.1:p.Ser419Leu
NR_120531.1:n.1959C>T
XM_005250297.3:c.1760C>T	XP_005250354.1:p.Ser587Leu
XM_011516113.1:c.1412C>T	XP_011514415.1:p.Ser471Leu
XM_011516114.1:c.1241C>T	XP_011514416.1:p.Ser414Leu
XM_005250297.4:c.1760C>T	XP_005250354.1:p.Ser587Leu
XM_011516114.2:c.1241C>T	XP_011514416.1:p.Ser414Leu
XM_017012091.1:c.1259C>T	XP_016867580.1:p.Ser420Leu
XM_017012092.1:c.1190C>T	XP_016867581.1:p.Ser397Leu
XM_017012093.2:c.1088C>T	XP_016867582.1:p.Ser363Leu
XR_001744658.2:n.1720C>T
XR_001744659.2:n.1833C>T
XR_001744660.2:n.1765C>T
XR_001744661.2:n.1680C>T
XR_927461.3:n.1918C>T
NM_000181.4:c.1913C>T MANE Select	NP_000172.2:p.Ser638Leu
NM_001284290.2:c.1475C>T	NP_001271219.1:p.Ser492Leu
NM_001293104.2:c.1343C>T	NP_001280033.1:p.Ser448Leu
NM_001293105.2:c.1256C>T	NP_001280034.1:p.Ser419Leu
NR_120531.2:n.1858C>T