Canonical Allele Identifier: CA367637578

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426022C>G (hg19) ; chr7:g.65961035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961035C>G , CM000669.2:g.65961035C>G	GRCh38
NC_000007.13:g.65426022C>G , CM000669.1:g.65426022C>G	GRCh37
NC_000007.12:g.65063457C>G	NCBI36
NG_016197.1:g.26280G>C
NG_051954.1:g.92937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1818G>C MANE Select	ENSP00000302728.4:p.Lys606Asn
ENST00000304895.8:c.1818G>C	ENSP00000302728.4:p.Lys606Asn
ENST00000421103.5:c.1380G>C	ENSP00000391390.1:p.Lys460Asn
ENST00000430730.5:c.*1085G>C	ENSP00000411859.1:n.*1085G>C
ENST00000447929.5:c.*1198G>C	ENSP00000411262.1:n.*1198G>C
ENST00000466883.5:n.2208G>C
NM_000181.3:c.1818G>C	NP_000172.2:p.Lys606Asn
NM_001284290.1:c.1380G>C	NP_001271219.1:p.Lys460Asn
NM_001293104.1:c.1248G>C	NP_001280033.1:p.Lys416Asn
NM_001293105.1:c.1161G>C	NP_001280034.1:p.Lys387Asn
NR_120531.1:n.1864G>C
XM_005250297.3:c.1665G>C	XP_005250354.1:p.Lys555Asn
XM_011516113.1:c.1317G>C	XP_011514415.1:p.Lys439Asn
XM_011516114.1:c.1146G>C	XP_011514416.1:p.Lys382Asn
XM_005250297.4:c.1665G>C	XP_005250354.1:p.Lys555Asn
XM_011516114.2:c.1146G>C	XP_011514416.1:p.Lys382Asn
XM_017012091.1:c.1164G>C	XP_016867580.1:p.Lys388Asn
XM_017012092.1:c.1095G>C	XP_016867581.1:p.Lys365Asn
XM_017012093.2:c.993G>C	XP_016867582.1:p.Lys331Asn
XR_001744658.2:n.1625G>C
XR_001744659.2:n.1738G>C
XR_001744660.2:n.1670G>C
XR_001744661.2:n.1585G>C
XR_927461.3:n.1823G>C
NM_000181.4:c.1818G>C MANE Select	NP_000172.2:p.Lys606Asn
NM_001284290.2:c.1380G>C	NP_001271219.1:p.Lys460Asn
NM_001293104.2:c.1248G>C	NP_001280033.1:p.Lys416Asn
NM_001293105.2:c.1161G>C	NP_001280034.1:p.Lys387Asn
NR_120531.2:n.1763G>C