Canonical Allele Identifier: CA367637323

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425978A>T (hg19) ; chr7:g.65960991A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960991A>T , CM000669.2:g.65960991A>T	GRCh38
NC_000007.13:g.65425978A>T , CM000669.1:g.65425978A>T	GRCh37
NC_000007.12:g.65063413A>T	NCBI36
NG_016197.1:g.26324T>A
NG_051954.1:g.92893A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1862T>A MANE Select	ENSP00000302728.4:p.Leu621His
ENST00000304895.8:c.1862T>A	ENSP00000302728.4:p.Leu621His
ENST00000421103.5:c.1424T>A	ENSP00000391390.1:p.Leu475His
ENST00000430730.5:c.*1129T>A	ENSP00000411859.1:n.*1129T>A
ENST00000447929.5:c.*1242T>A	ENSP00000411262.1:n.*1242T>A
ENST00000466883.5:n.2252T>A
NM_000181.3:c.1862T>A	NP_000172.2:p.Leu621His
NM_001284290.1:c.1424T>A	NP_001271219.1:p.Leu475His
NM_001293104.1:c.1292T>A	NP_001280033.1:p.Leu431His
NM_001293105.1:c.1205T>A	NP_001280034.1:p.Leu402His
NR_120531.1:n.1908T>A
XM_005250297.3:c.1709T>A	XP_005250354.1:p.Leu570His
XM_011516113.1:c.1361T>A	XP_011514415.1:p.Leu454His
XM_011516114.1:c.1190T>A	XP_011514416.1:p.Leu397His
XM_005250297.4:c.1709T>A	XP_005250354.1:p.Leu570His
XM_011516114.2:c.1190T>A	XP_011514416.1:p.Leu397His
XM_017012091.1:c.1208T>A	XP_016867580.1:p.Leu403His
XM_017012092.1:c.1139T>A	XP_016867581.1:p.Leu380His
XM_017012093.2:c.1037T>A	XP_016867582.1:p.Leu346His
XR_001744658.2:n.1669T>A
XR_001744659.2:n.1782T>A
XR_001744660.2:n.1714T>A
XR_001744661.2:n.1629T>A
XR_927461.3:n.1867T>A
NM_000181.4:c.1862T>A MANE Select	NP_000172.2:p.Leu621His
NM_001284290.2:c.1424T>A	NP_001271219.1:p.Leu475His
NM_001293104.2:c.1292T>A	NP_001280033.1:p.Leu431His
NM_001293105.2:c.1205T>A	NP_001280034.1:p.Leu402His
NR_120531.2:n.1807T>A