Canonical Allele Identifier: CA367637079

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425922C>G (hg19) ; chr7:g.65960935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960935C>G , CM000669.2:g.65960935C>G	GRCh38
NC_000007.13:g.65425922C>G , CM000669.1:g.65425922C>G	GRCh37
NC_000007.12:g.65063357C>G	NCBI36
NG_016197.1:g.26380G>C
NG_051954.1:g.92837C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1918G>C MANE Select	ENSP00000302728.4:p.Ala640Pro
ENST00000304895.8:c.1918G>C	ENSP00000302728.4:p.Ala640Pro
ENST00000421103.5:c.1480G>C	ENSP00000391390.1:p.Ala494Pro
ENST00000430730.5:c.*1185G>C	ENSP00000411859.1:n.*1185G>C
ENST00000447929.5:c.*1298G>C	ENSP00000411262.1:n.*1298G>C
ENST00000466883.5:n.2308G>C
NM_000181.3:c.1918G>C	NP_000172.2:p.Ala640Pro
NM_001284290.1:c.1480G>C	NP_001271219.1:p.Ala494Pro
NM_001293104.1:c.1348G>C	NP_001280033.1:p.Ala450Pro
NM_001293105.1:c.1261G>C	NP_001280034.1:p.Ala421Pro
NR_120531.1:n.1964G>C
XM_005250297.3:c.1765G>C	XP_005250354.1:p.Ala589Pro
XM_011516113.1:c.1417G>C	XP_011514415.1:p.Ala473Pro
XM_011516114.1:c.1246G>C	XP_011514416.1:p.Ala416Pro
XM_005250297.4:c.1765G>C	XP_005250354.1:p.Ala589Pro
XM_011516114.2:c.1246G>C	XP_011514416.1:p.Ala416Pro
XM_017012091.1:c.1264G>C	XP_016867580.1:p.Ala422Pro
XM_017012092.1:c.1195G>C	XP_016867581.1:p.Ala399Pro
XM_017012093.2:c.1093G>C	XP_016867582.1:p.Ala365Pro
XR_001744658.2:n.1725G>C
XR_001744659.2:n.1838G>C
XR_001744660.2:n.1770G>C
XR_001744661.2:n.1685G>C
XR_927461.3:n.1923G>C
NM_000181.4:c.1918G>C MANE Select	NP_000172.2:p.Ala640Pro
NM_001284290.2:c.1480G>C	NP_001271219.1:p.Ala494Pro
NM_001293104.2:c.1348G>C	NP_001280033.1:p.Ala450Pro
NM_001293105.2:c.1261G>C	NP_001280034.1:p.Ala421Pro
NR_120531.2:n.1863G>C