Canonical Allele Identifier: CA367637053

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1924T>G MANE Select	ENSP00000302728.4:p.Ser642Ala
ENST00000304895.8:c.1924T>G	ENSP00000302728.4:p.Ser642Ala
ENST00000421103.5:c.1486T>G	ENSP00000391390.1:p.Ser496Ala
ENST00000430730.5:c.*1191T>G	ENSP00000411859.1:n.*1191T>G
ENST00000447929.5:c.*1304T>G	ENSP00000411262.1:n.*1304T>G
ENST00000466883.5:n.2314T>G
NM_000181.3:c.1924T>G	NP_000172.2:p.Ser642Ala
NM_001284290.1:c.1486T>G	NP_001271219.1:p.Ser496Ala
NM_001293104.1:c.1354T>G	NP_001280033.1:p.Ser452Ala
NM_001293105.1:c.1267T>G	NP_001280034.1:p.Ser423Ala
NR_120531.1:n.1970T>G
XM_005250297.3:c.1771T>G	XP_005250354.1:p.Ser591Ala
XM_011516113.1:c.1423T>G	XP_011514415.1:p.Ser475Ala
XM_011516114.1:c.1252T>G	XP_011514416.1:p.Ser418Ala
XM_005250297.4:c.1771T>G	XP_005250354.1:p.Ser591Ala
XM_011516114.2:c.1252T>G	XP_011514416.1:p.Ser418Ala
XM_017012091.1:c.1270T>G	XP_016867580.1:p.Ser424Ala
XM_017012092.1:c.1201T>G	XP_016867581.1:p.Ser401Ala
XM_017012093.2:c.1099T>G	XP_016867582.1:p.Ser367Ala
XR_001744658.2:n.1731T>G
XR_001744659.2:n.1844T>G
XR_001744660.2:n.1776T>G
XR_001744661.2:n.1691T>G
XR_927461.3:n.1929T>G
NM_000181.4:c.1924T>G MANE Select	NP_000172.2:p.Ser642Ala
NM_001284290.2:c.1486T>G	NP_001271219.1:p.Ser496Ala
NM_001293104.2:c.1354T>G	NP_001280033.1:p.Ser452Ala
NM_001293105.2:c.1267T>G	NP_001280034.1:p.Ser423Ala
NR_120531.2:n.1869T>G