Canonical Allele Identifier: CA367637304

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425974C>A (hg19) ; chr7:g.65960987C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960987C>A , CM000669.2:g.65960987C>A	GRCh38
NC_000007.13:g.65425974C>A , CM000669.1:g.65425974C>A	GRCh37
NC_000007.12:g.65063409C>A	NCBI36
NG_016197.1:g.26328G>T
NG_051954.1:g.92889C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1866G>T MANE Select	ENSP00000302728.4:p.Leu622Phe
ENST00000304895.8:c.1866G>T	ENSP00000302728.4:p.Leu622Phe
ENST00000421103.5:c.1428G>T	ENSP00000391390.1:p.Leu476Phe
ENST00000430730.5:c.*1133G>T	ENSP00000411859.1:n.*1133G>T
ENST00000447929.5:c.*1246G>T	ENSP00000411262.1:n.*1246G>T
ENST00000466883.5:n.2256G>T
NM_000181.3:c.1866G>T	NP_000172.2:p.Leu622Phe
NM_001284290.1:c.1428G>T	NP_001271219.1:p.Leu476Phe
NM_001293104.1:c.1296G>T	NP_001280033.1:p.Leu432Phe
NM_001293105.1:c.1209G>T	NP_001280034.1:p.Leu403Phe
NR_120531.1:n.1912G>T
XM_005250297.3:c.1713G>T	XP_005250354.1:p.Leu571Phe
XM_011516113.1:c.1365G>T	XP_011514415.1:p.Leu455Phe
XM_011516114.1:c.1194G>T	XP_011514416.1:p.Leu398Phe
XM_005250297.4:c.1713G>T	XP_005250354.1:p.Leu571Phe
XM_011516114.2:c.1194G>T	XP_011514416.1:p.Leu398Phe
XM_017012091.1:c.1212G>T	XP_016867580.1:p.Leu404Phe
XM_017012092.1:c.1143G>T	XP_016867581.1:p.Leu381Phe
XM_017012093.2:c.1041G>T	XP_016867582.1:p.Leu347Phe
XR_001744658.2:n.1673G>T
XR_001744659.2:n.1786G>T
XR_001744660.2:n.1718G>T
XR_001744661.2:n.1633G>T
XR_927461.3:n.1871G>T
NM_000181.4:c.1866G>T MANE Select	NP_000172.2:p.Leu622Phe
NM_001284290.2:c.1428G>T	NP_001271219.1:p.Leu476Phe
NM_001293104.2:c.1296G>T	NP_001280033.1:p.Leu432Phe
NM_001293105.2:c.1209G>T	NP_001280034.1:p.Leu403Phe
NR_120531.2:n.1811G>T