Canonical Allele Identifier: CA1713853984

Gene: GUSB

Linked Data

• dbSNP Id: rs1583878497

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960690G>T , CM000669.2:g.65960690G>T	GRCh38
NC_000007.13:g.65425677G>T , CM000669.1:g.65425677G>T	GRCh37
NC_000007.12:g.65063112G>T	NCBI36
NG_016197.1:g.26625C>A
NG_051954.1:g.92592G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.*207C>A MANE Select	ENSP00000302728.4:n.*207C>A
ENST00000304895.8:c.*207C>A	ENSP00000302728.4:n.*207C>A
ENST00000466883.5:n.2553C>A
NM_000181.3:c.*207C>A	NP_000172.2:n.*207C>A
NM_001284290.1:c.*207C>A	NP_001271219.1:n.*207C>A
NM_001293104.1:c.*207C>A	NP_001280033.1:n.*207C>A
NM_001293105.1:c.*207C>A	NP_001280034.1:n.*207C>A
NR_120531.1:n.2209C>A
XM_005250297.3:c.*207C>A	XP_005250354.1:n.*207C>A
XM_011516113.1:c.*207C>A	XP_011514415.1:n.*207C>A
XM_011516114.1:c.*207C>A	XP_011514416.1:n.*207C>A
XM_005250297.4:c.*207C>A	XP_005250354.1:n.*207C>A
XM_011516114.2:c.*207C>A	XP_011514416.1:n.*207C>A
XM_017012091.1:c.*207C>A	XP_016867580.1:n.*207C>A
XM_017012092.1:c.*207C>A	XP_016867581.1:n.*207C>A
XM_017012093.2:c.*207C>A	XP_016867582.1:n.*207C>A
XR_001744658.2:n.1970C>A
XR_001744659.2:n.2083C>A
NM_000181.4:c.*207C>A MANE Select	NP_000172.2:n.*207C>A
NM_001284290.2:c.*207C>A	NP_001271219.1:n.*207C>A
NM_001293104.2:c.*207C>A	NP_001280033.1:n.*207C>A
NM_001293105.2:c.*207C>A	NP_001280034.1:n.*207C>A
NR_120531.2:n.2108C>A