Canonical Allele Identifier: CA367637404

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425992T>G (hg19) ; chr7:g.65961005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961005T>G , CM000669.2:g.65961005T>G	GRCh38
NC_000007.13:g.65425992T>G , CM000669.1:g.65425992T>G	GRCh37
NC_000007.12:g.65063427T>G	NCBI36
NG_016197.1:g.26310A>C
NG_051954.1:g.92907T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1848A>C MANE Select	ENSP00000302728.4:p.Lys616Asn
ENST00000304895.8:c.1848A>C	ENSP00000302728.4:p.Lys616Asn
ENST00000421103.5:c.1410A>C	ENSP00000391390.1:p.Lys470Asn
ENST00000430730.5:c.*1115A>C	ENSP00000411859.1:n.*1115A>C
ENST00000447929.5:c.*1228A>C	ENSP00000411262.1:n.*1228A>C
ENST00000466883.5:n.2238A>C
NM_000181.3:c.1848A>C	NP_000172.2:p.Lys616Asn
NM_001284290.1:c.1410A>C	NP_001271219.1:p.Lys470Asn
NM_001293104.1:c.1278A>C	NP_001280033.1:p.Lys426Asn
NM_001293105.1:c.1191A>C	NP_001280034.1:p.Lys397Asn
NR_120531.1:n.1894A>C
XM_005250297.3:c.1695A>C	XP_005250354.1:p.Lys565Asn
XM_011516113.1:c.1347A>C	XP_011514415.1:p.Lys449Asn
XM_011516114.1:c.1176A>C	XP_011514416.1:p.Lys392Asn
XM_005250297.4:c.1695A>C	XP_005250354.1:p.Lys565Asn
XM_011516114.2:c.1176A>C	XP_011514416.1:p.Lys392Asn
XM_017012091.1:c.1194A>C	XP_016867580.1:p.Lys398Asn
XM_017012092.1:c.1125A>C	XP_016867581.1:p.Lys375Asn
XM_017012093.2:c.1023A>C	XP_016867582.1:p.Lys341Asn
XR_001744658.2:n.1655A>C
XR_001744659.2:n.1768A>C
XR_001744660.2:n.1700A>C
XR_001744661.2:n.1615A>C
XR_927461.3:n.1853A>C
NM_000181.4:c.1848A>C MANE Select	NP_000172.2:p.Lys616Asn
NM_001284290.2:c.1410A>C	NP_001271219.1:p.Lys470Asn
NM_001293104.2:c.1278A>C	NP_001280033.1:p.Lys426Asn
NM_001293105.2:c.1191A>C	NP_001280034.1:p.Lys397Asn
NR_120531.2:n.1793A>C