Canonical Allele Identifier: CA367637049

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425916A>G (hg19) ; chr7:g.65960929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960929A>G , CM000669.2:g.65960929A>G	GRCh38
NC_000007.13:g.65425916A>G , CM000669.1:g.65425916A>G	GRCh37
NC_000007.12:g.65063351A>G	NCBI36
NG_016197.1:g.26386T>C
NG_051954.1:g.92831A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1924T>C MANE Select	ENSP00000302728.4:p.Ser642Pro
ENST00000304895.8:c.1924T>C	ENSP00000302728.4:p.Ser642Pro
ENST00000421103.5:c.1486T>C	ENSP00000391390.1:p.Ser496Pro
ENST00000430730.5:c.*1191T>C	ENSP00000411859.1:n.*1191T>C
ENST00000447929.5:c.*1304T>C	ENSP00000411262.1:n.*1304T>C
ENST00000466883.5:n.2314T>C
NM_000181.3:c.1924T>C	NP_000172.2:p.Ser642Pro
NM_001284290.1:c.1486T>C	NP_001271219.1:p.Ser496Pro
NM_001293104.1:c.1354T>C	NP_001280033.1:p.Ser452Pro
NM_001293105.1:c.1267T>C	NP_001280034.1:p.Ser423Pro
NR_120531.1:n.1970T>C
XM_005250297.3:c.1771T>C	XP_005250354.1:p.Ser591Pro
XM_011516113.1:c.1423T>C	XP_011514415.1:p.Ser475Pro
XM_011516114.1:c.1252T>C	XP_011514416.1:p.Ser418Pro
XM_005250297.4:c.1771T>C	XP_005250354.1:p.Ser591Pro
XM_011516114.2:c.1252T>C	XP_011514416.1:p.Ser418Pro
XM_017012091.1:c.1270T>C	XP_016867580.1:p.Ser424Pro
XM_017012092.1:c.1201T>C	XP_016867581.1:p.Ser401Pro
XM_017012093.2:c.1099T>C	XP_016867582.1:p.Ser367Pro
XR_001744658.2:n.1731T>C
XR_001744659.2:n.1844T>C
XR_001744660.2:n.1776T>C
XR_001744661.2:n.1691T>C
XR_927461.3:n.1929T>C
NM_000181.4:c.1924T>C MANE Select	NP_000172.2:p.Ser642Pro
NM_001284290.2:c.1486T>C	NP_001271219.1:p.Ser496Pro
NM_001293104.2:c.1354T>C	NP_001280033.1:p.Ser452Pro
NM_001293105.2:c.1267T>C	NP_001280034.1:p.Ser423Pro
NR_120531.2:n.1869T>C