Canonical Allele Identifier: CA367637673

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426039C>A (hg19) ; chr7:g.65961052C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961052C>A , CM000669.2:g.65961052C>A	GRCh38
NC_000007.13:g.65426039C>A , CM000669.1:g.65426039C>A	GRCh37
NC_000007.12:g.65063474C>A	NCBI36
NG_016197.1:g.26263G>T
NG_051954.1:g.92954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1801G>T MANE Select	ENSP00000302728.4:p.Val601Leu
ENST00000304895.8:c.1801G>T	ENSP00000302728.4:p.Val601Leu
ENST00000421103.5:c.1363G>T	ENSP00000391390.1:p.Val455Leu
ENST00000430730.5:c.*1068G>T	ENSP00000411859.1:n.*1068G>T
ENST00000447929.5:c.*1181G>T	ENSP00000411262.1:n.*1181G>T
ENST00000466883.5:n.2191G>T
NM_000181.3:c.1801G>T	NP_000172.2:p.Val601Leu
NM_001284290.1:c.1363G>T	NP_001271219.1:p.Val455Leu
NM_001293104.1:c.1231G>T	NP_001280033.1:p.Val411Leu
NM_001293105.1:c.1144G>T	NP_001280034.1:p.Val382Leu
NR_120531.1:n.1847G>T
XM_005250297.3:c.1648G>T	XP_005250354.1:p.Val550Leu
XM_011516113.1:c.1300G>T	XP_011514415.1:p.Val434Leu
XM_011516114.1:c.1129G>T	XP_011514416.1:p.Val377Leu
XM_005250297.4:c.1648G>T	XP_005250354.1:p.Val550Leu
XM_011516114.2:c.1129G>T	XP_011514416.1:p.Val377Leu
XM_017012091.1:c.1147G>T	XP_016867580.1:p.Val383Leu
XM_017012092.1:c.1078G>T	XP_016867581.1:p.Val360Leu
XM_017012093.2:c.976G>T	XP_016867582.1:p.Val326Leu
XR_001744658.2:n.1608G>T
XR_001744659.2:n.1721G>T
XR_001744660.2:n.1653G>T
XR_001744661.2:n.1568G>T
XR_927461.3:n.1806G>T
NM_000181.4:c.1801G>T MANE Select	NP_000172.2:p.Val601Leu
NM_001284290.2:c.1363G>T	NP_001271219.1:p.Val455Leu
NM_001293104.2:c.1231G>T	NP_001280033.1:p.Val411Leu
NM_001293105.2:c.1144G>T	NP_001280034.1:p.Val382Leu
NR_120531.2:n.1746G>T