Canonical Allele Identifier: CA367639982

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432778C>G (hg19) ; chr7:g.65967791C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967791C>G , CM000669.2:g.65967791C>G	GRCh38
NC_000007.13:g.65432778C>G , CM000669.1:g.65432778C>G	GRCh37
NC_000007.12:g.65070213C>G	NCBI36
NG_016197.1:g.19524G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1593G>C MANE Select	ENSP00000302728.4:p.Lys531Asn
ENST00000304895.8:c.1593G>C	ENSP00000302728.4:p.Lys531Asn
ENST00000421103.5:c.1155G>C	ENSP00000391390.1:p.Lys385Asn
ENST00000430730.5:c.*860G>C	ENSP00000411859.1:n.*860G>C
ENST00000447929.5:c.*973G>C	ENSP00000411262.1:n.*973G>C
ENST00000461622.1:n.118G>C
ENST00000462371.1:n.631G>C
ENST00000466883.5:n.1983G>C
NM_000181.3:c.1593G>C	NP_000172.2:p.Lys531Asn
NM_001284290.1:c.1155G>C	NP_001271219.1:p.Lys385Asn
NM_001293104.1:c.1023G>C	NP_001280033.1:p.Lys341Asn
NM_001293105.1:c.936G>C	NP_001280034.1:p.Lys312Asn
NR_120531.1:n.1639G>C
XM_005250297.3:c.1440G>C	XP_005250354.1:p.Lys480Asn
XM_011516113.1:c.1092G>C	XP_011514415.1:p.Lys364Asn
XM_011516114.1:c.921G>C	XP_011514416.1:p.Lys307Asn
XR_927461.1:n.1679G>C
XM_005250297.4:c.1440G>C	XP_005250354.1:p.Lys480Asn
XM_011516114.2:c.921G>C	XP_011514416.1:p.Lys307Asn
XM_017012091.1:c.939G>C	XP_016867580.1:p.Lys313Asn
XM_017012092.1:c.870G>C	XP_016867581.1:p.Lys290Asn
XM_017012093.2:c.768G>C	XP_016867582.1:p.Lys256Asn
XR_001744658.2:n.1400G>C
XR_001744659.2:n.1513G>C
XR_001744660.2:n.1445G>C
XR_001744661.2:n.1360G>C
XR_927461.3:n.1598G>C
NM_000181.4:c.1593G>C MANE Select	NP_000172.2:p.Lys531Asn
NM_001284290.2:c.1155G>C	NP_001271219.1:p.Lys385Asn
NM_001293104.2:c.1023G>C	NP_001280033.1:p.Lys341Asn
NM_001293105.2:c.936G>C	NP_001280034.1:p.Lys312Asn
NR_120531.2:n.1538G>C