Canonical Allele Identifier: CA367636973

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425899G>C (hg19) ; chr7:g.65960912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960912G>C , CM000669.2:g.65960912G>C	GRCh38
NC_000007.13:g.65425899G>C , CM000669.1:g.65425899G>C	GRCh37
NC_000007.12:g.65063334G>C	NCBI36
NG_016197.1:g.26403C>G
NG_051954.1:g.92814G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1941C>G MANE Select	ENSP00000302728.4:p.Asn647Lys
ENST00000304895.8:c.1941C>G	ENSP00000302728.4:p.Asn647Lys
ENST00000421103.5:c.1503C>G	ENSP00000391390.1:p.Asn501Lys
ENST00000430730.5:c.*1208C>G	ENSP00000411859.1:n.*1208C>G
ENST00000447929.5:c.*1321C>G	ENSP00000411262.1:n.*1321C>G
ENST00000466883.5:n.2331C>G
NM_000181.3:c.1941C>G	NP_000172.2:p.Asn647Lys
NM_001284290.1:c.1503C>G	NP_001271219.1:p.Asn501Lys
NM_001293104.1:c.1371C>G	NP_001280033.1:p.Asn457Lys
NM_001293105.1:c.1284C>G	NP_001280034.1:p.Asn428Lys
NR_120531.1:n.1987C>G
XM_005250297.3:c.1788C>G	XP_005250354.1:p.Asn596Lys
XM_011516113.1:c.1440C>G	XP_011514415.1:p.Asn480Lys
XM_011516114.1:c.1269C>G	XP_011514416.1:p.Asn423Lys
XM_005250297.4:c.1788C>G	XP_005250354.1:p.Asn596Lys
XM_011516114.2:c.1269C>G	XP_011514416.1:p.Asn423Lys
XM_017012091.1:c.1287C>G	XP_016867580.1:p.Asn429Lys
XM_017012092.1:c.1218C>G	XP_016867581.1:p.Asn406Lys
XM_017012093.2:c.1116C>G	XP_016867582.1:p.Asn372Lys
XR_001744658.2:n.1748C>G
XR_001744659.2:n.1861C>G
XR_001744660.2:n.1793C>G
XR_001744661.2:n.1708C>G
XR_927461.3:n.1946C>G
NM_000181.4:c.1941C>G MANE Select	NP_000172.2:p.Asn647Lys
NM_001284290.2:c.1503C>G	NP_001271219.1:p.Asn501Lys
NM_001293104.2:c.1371C>G	NP_001280033.1:p.Asn457Lys
NM_001293105.2:c.1284C>G	NP_001280034.1:p.Asn428Lys
NR_120531.2:n.1886C>G