Canonical Allele Identifier: CA367637567

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426021C>G (hg19) ; chr7:g.65961034C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961034C>G , CM000669.2:g.65961034C>G	GRCh38
NC_000007.13:g.65426021C>G , CM000669.1:g.65426021C>G	GRCh37
NC_000007.12:g.65063456C>G	NCBI36
NG_016197.1:g.26281G>C
NG_051954.1:g.92936C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1819G>C MANE Select	ENSP00000302728.4:p.Gly607Arg
ENST00000304895.8:c.1819G>C	ENSP00000302728.4:p.Gly607Arg
ENST00000421103.5:c.1381G>C	ENSP00000391390.1:p.Gly461Arg
ENST00000430730.5:c.*1086G>C	ENSP00000411859.1:n.*1086G>C
ENST00000447929.5:c.*1199G>C	ENSP00000411262.1:n.*1199G>C
ENST00000466883.5:n.2209G>C
NM_000181.3:c.1819G>C	NP_000172.2:p.Gly607Arg
NM_001284290.1:c.1381G>C	NP_001271219.1:p.Gly461Arg
NM_001293104.1:c.1249G>C	NP_001280033.1:p.Gly417Arg
NM_001293105.1:c.1162G>C	NP_001280034.1:p.Gly388Arg
NR_120531.1:n.1865G>C
XM_005250297.3:c.1666G>C	XP_005250354.1:p.Gly556Arg
XM_011516113.1:c.1318G>C	XP_011514415.1:p.Gly440Arg
XM_011516114.1:c.1147G>C	XP_011514416.1:p.Gly383Arg
XM_005250297.4:c.1666G>C	XP_005250354.1:p.Gly556Arg
XM_011516114.2:c.1147G>C	XP_011514416.1:p.Gly383Arg
XM_017012091.1:c.1165G>C	XP_016867580.1:p.Gly389Arg
XM_017012092.1:c.1096G>C	XP_016867581.1:p.Gly366Arg
XM_017012093.2:c.994G>C	XP_016867582.1:p.Gly332Arg
XR_001744658.2:n.1626G>C
XR_001744659.2:n.1739G>C
XR_001744660.2:n.1671G>C
XR_001744661.2:n.1586G>C
XR_927461.3:n.1824G>C
NM_000181.4:c.1819G>C MANE Select	NP_000172.2:p.Gly607Arg
NM_001284290.2:c.1381G>C	NP_001271219.1:p.Gly461Arg
NM_001293104.2:c.1249G>C	NP_001280033.1:p.Gly417Arg
NM_001293105.2:c.1162G>C	NP_001280034.1:p.Gly388Arg
NR_120531.2:n.1764G>C