Canonical Allele Identifier: CA367639696

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432718C>A (hg19) ; chr7:g.65967731C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967731C>A , CM000669.2:g.65967731C>A	GRCh38
NC_000007.13:g.65432718C>A , CM000669.1:g.65432718C>A	GRCh37
NC_000007.12:g.65070153C>A	NCBI36
NG_016197.1:g.19584G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1653G>T MANE Select	ENSP00000302728.4:p.Gln551His
ENST00000304895.8:c.1653G>T	ENSP00000302728.4:p.Gln551His
ENST00000421103.5:c.1215G>T	ENSP00000391390.1:p.Gln405His
ENST00000430730.5:c.*920G>T	ENSP00000411859.1:n.*920G>T
ENST00000447929.5:c.*1033G>T	ENSP00000411262.1:n.*1033G>T
ENST00000461622.1:n.178G>T
ENST00000462371.1:n.691G>T
ENST00000466883.5:n.2043G>T
NM_000181.3:c.1653G>T	NP_000172.2:p.Gln551His
NM_001284290.1:c.1215G>T	NP_001271219.1:p.Gln405His
NM_001293104.1:c.1083G>T	NP_001280033.1:p.Gln361His
NM_001293105.1:c.996G>T	NP_001280034.1:p.Gln332His
NR_120531.1:n.1699G>T
XM_005250297.3:c.1500G>T	XP_005250354.1:p.Gln500His
XM_011516113.1:c.1152G>T	XP_011514415.1:p.Gln384His
XM_011516114.1:c.981G>T	XP_011514416.1:p.Gln327His
XR_927461.1:n.1739G>T
XM_005250297.4:c.1500G>T	XP_005250354.1:p.Gln500His
XM_011516114.2:c.981G>T	XP_011514416.1:p.Gln327His
XM_017012091.1:c.999G>T	XP_016867580.1:p.Gln333His
XM_017012092.1:c.930G>T	XP_016867581.1:p.Gln310His
XM_017012093.2:c.828G>T	XP_016867582.1:p.Gln276His
XR_001744658.2:n.1460G>T
XR_001744659.2:n.1573G>T
XR_001744660.2:n.1505G>T
XR_001744661.2:n.1420G>T
XR_927461.3:n.1658G>T
NM_000181.4:c.1653G>T MANE Select	NP_000172.2:p.Gln551His
NM_001284290.2:c.1215G>T	NP_001271219.1:p.Gln405His
NM_001293104.2:c.1083G>T	NP_001280033.1:p.Gln361His
NM_001293105.2:c.996G>T	NP_001280034.1:p.Gln332His
NR_120531.2:n.1598G>T