Canonical Allele Identifier: CA367637109

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425930T>A (hg19) ; chr7:g.65960943T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960943T>A , CM000669.2:g.65960943T>A	GRCh38
NC_000007.13:g.65425930T>A , CM000669.1:g.65425930T>A	GRCh37
NC_000007.12:g.65063365T>A	NCBI36
NG_016197.1:g.26372A>T
NG_051954.1:g.92845T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1910A>T MANE Select	ENSP00000302728.4:p.His637Leu
ENST00000304895.8:c.1910A>T	ENSP00000302728.4:p.His637Leu
ENST00000421103.5:c.1472A>T	ENSP00000391390.1:p.His491Leu
ENST00000430730.5:c.*1177A>T	ENSP00000411859.1:n.*1177A>T
ENST00000447929.5:c.*1290A>T	ENSP00000411262.1:n.*1290A>T
ENST00000466883.5:n.2300A>T
NM_000181.3:c.1910A>T	NP_000172.2:p.His637Leu
NM_001284290.1:c.1472A>T	NP_001271219.1:p.His491Leu
NM_001293104.1:c.1340A>T	NP_001280033.1:p.His447Leu
NM_001293105.1:c.1253A>T	NP_001280034.1:p.His418Leu
NR_120531.1:n.1956A>T
XM_005250297.3:c.1757A>T	XP_005250354.1:p.His586Leu
XM_011516113.1:c.1409A>T	XP_011514415.1:p.His470Leu
XM_011516114.1:c.1238A>T	XP_011514416.1:p.His413Leu
XM_005250297.4:c.1757A>T	XP_005250354.1:p.His586Leu
XM_011516114.2:c.1238A>T	XP_011514416.1:p.His413Leu
XM_017012091.1:c.1256A>T	XP_016867580.1:p.His419Leu
XM_017012092.1:c.1187A>T	XP_016867581.1:p.His396Leu
XM_017012093.2:c.1085A>T	XP_016867582.1:p.His362Leu
XR_001744658.2:n.1717A>T
XR_001744659.2:n.1830A>T
XR_001744660.2:n.1762A>T
XR_001744661.2:n.1677A>T
XR_927461.3:n.1915A>T
NM_000181.4:c.1910A>T MANE Select	NP_000172.2:p.His637Leu
NM_001284290.2:c.1472A>T	NP_001271219.1:p.His491Leu
NM_001293104.2:c.1340A>T	NP_001280033.1:p.His447Leu
NM_001293105.2:c.1253A>T	NP_001280034.1:p.His418Leu
NR_120531.2:n.1855A>T