Canonical Allele Identifier: CA455439622

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425950G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960963G>A , CM000669.2:g.65960963G>A	GRCh38
NC_000007.13:g.65425950G>A , CM000669.1:g.65425950G>A	GRCh37
NC_000007.12:g.65063385G>A	NCBI36
NG_016197.1:g.26352C>T
NG_051954.1:g.92865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1890C>T MANE Select	ENSP00000302728.4:p.Ala630=
ENST00000304895.8:c.1890C>T	ENSP00000302728.4:p.Ala630=
ENST00000421103.5:c.1452C>T	ENSP00000391390.1:p.Ala484=
ENST00000430730.5:c.*1157C>T	ENSP00000411859.1:n.*1157C>T
ENST00000447929.5:c.*1270C>T	ENSP00000411262.1:n.*1270C>T
ENST00000466883.5:n.2280C>T
NM_000181.3:c.1890C>T	NP_000172.2:p.Ala630=
NM_001284290.1:c.1452C>T	NP_001271219.1:p.Ala484=
NM_001293104.1:c.1320C>T	NP_001280033.1:p.Ala440=
NM_001293105.1:c.1233C>T	NP_001280034.1:p.Ala411=
NR_120531.1:n.1936C>T
XM_005250297.3:c.1737C>T	XP_005250354.1:p.Ala579=
XM_011516113.1:c.1389C>T	XP_011514415.1:p.Ala463=
XM_011516114.1:c.1218C>T	XP_011514416.1:p.Ala406=
XM_005250297.4:c.1737C>T	XP_005250354.1:p.Ala579=
XM_011516114.2:c.1218C>T	XP_011514416.1:p.Ala406=
XM_017012091.1:c.1236C>T	XP_016867580.1:p.Ala412=
XM_017012092.1:c.1167C>T	XP_016867581.1:p.Ala389=
XM_017012093.2:c.1065C>T	XP_016867582.1:p.Ala355=
XR_001744658.2:n.1697C>T
XR_001744659.2:n.1810C>T
XR_001744660.2:n.1742C>T
XR_001744661.2:n.1657C>T
XR_927461.3:n.1895C>T
NM_000181.4:c.1890C>T MANE Select	NP_000172.2:p.Ala630=
NM_001284290.2:c.1452C>T	NP_001271219.1:p.Ala484=
NM_001293104.2:c.1320C>T	NP_001280033.1:p.Ala440=
NM_001293105.2:c.1233C>T	NP_001280034.1:p.Ala411=
NR_120531.2:n.1835C>T