Canonical Allele Identifier: CA367637255

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425962G>T (hg19) ; chr7:g.65960975G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960975G>T , CM000669.2:g.65960975G>T	GRCh38
NC_000007.13:g.65425962G>T , CM000669.1:g.65425962G>T	GRCh37
NC_000007.12:g.65063397G>T	NCBI36
NG_016197.1:g.26340C>A
NG_051954.1:g.92877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1878C>A MANE Select	ENSP00000302728.4:p.Tyr626Ter
ENST00000304895.8:c.1878C>A	ENSP00000302728.4:p.Tyr626Ter
ENST00000421103.5:c.1440C>A	ENSP00000391390.1:p.Tyr480Ter
ENST00000430730.5:c.*1145C>A	ENSP00000411859.1:n.*1145C>A
ENST00000447929.5:c.*1258C>A	ENSP00000411262.1:n.*1258C>A
ENST00000466883.5:n.2268C>A
NM_000181.3:c.1878C>A	NP_000172.2:p.Tyr626Ter
NM_001284290.1:c.1440C>A	NP_001271219.1:p.Tyr480Ter
NM_001293104.1:c.1308C>A	NP_001280033.1:p.Tyr436Ter
NM_001293105.1:c.1221C>A	NP_001280034.1:p.Tyr407Ter
NR_120531.1:n.1924C>A
XM_005250297.3:c.1725C>A	XP_005250354.1:p.Tyr575Ter
XM_011516113.1:c.1377C>A	XP_011514415.1:p.Tyr459Ter
XM_011516114.1:c.1206C>A	XP_011514416.1:p.Tyr402Ter
XM_005250297.4:c.1725C>A	XP_005250354.1:p.Tyr575Ter
XM_011516114.2:c.1206C>A	XP_011514416.1:p.Tyr402Ter
XM_017012091.1:c.1224C>A	XP_016867580.1:p.Tyr408Ter
XM_017012092.1:c.1155C>A	XP_016867581.1:p.Tyr385Ter
XM_017012093.2:c.1053C>A	XP_016867582.1:p.Tyr351Ter
XR_001744658.2:n.1685C>A
XR_001744659.2:n.1798C>A
XR_001744660.2:n.1730C>A
XR_001744661.2:n.1645C>A
XR_927461.3:n.1883C>A
NM_000181.4:c.1878C>A MANE Select	NP_000172.2:p.Tyr626Ter
NM_001284290.2:c.1440C>A	NP_001271219.1:p.Tyr480Ter
NM_001293104.2:c.1308C>A	NP_001280033.1:p.Tyr436Ter
NM_001293105.2:c.1221C>A	NP_001280034.1:p.Tyr407Ter
NR_120531.2:n.1823C>A