Canonical Allele Identifier: CA367637433

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425998T>G (hg19) ; chr7:g.65961011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961011T>G , CM000669.2:g.65961011T>G	GRCh38
NC_000007.13:g.65425998T>G , CM000669.1:g.65425998T>G	GRCh37
NC_000007.12:g.65063433T>G	NCBI36
NG_016197.1:g.26304A>C
NG_051954.1:g.92913T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1842A>C MANE Select	ENSP00000302728.4:p.Gln614His
ENST00000304895.8:c.1842A>C	ENSP00000302728.4:p.Gln614His
ENST00000421103.5:c.1404A>C	ENSP00000391390.1:p.Gln468His
ENST00000430730.5:c.*1109A>C	ENSP00000411859.1:n.*1109A>C
ENST00000447929.5:c.*1222A>C	ENSP00000411262.1:n.*1222A>C
ENST00000466883.5:n.2232A>C
NM_000181.3:c.1842A>C	NP_000172.2:p.Gln614His
NM_001284290.1:c.1404A>C	NP_001271219.1:p.Gln468His
NM_001293104.1:c.1272A>C	NP_001280033.1:p.Gln424His
NM_001293105.1:c.1185A>C	NP_001280034.1:p.Gln395His
NR_120531.1:n.1888A>C
XM_005250297.3:c.1689A>C	XP_005250354.1:p.Gln563His
XM_011516113.1:c.1341A>C	XP_011514415.1:p.Gln447His
XM_011516114.1:c.1170A>C	XP_011514416.1:p.Gln390His
XM_005250297.4:c.1689A>C	XP_005250354.1:p.Gln563His
XM_011516114.2:c.1170A>C	XP_011514416.1:p.Gln390His
XM_017012091.1:c.1188A>C	XP_016867580.1:p.Gln396His
XM_017012092.1:c.1119A>C	XP_016867581.1:p.Gln373His
XM_017012093.2:c.1017A>C	XP_016867582.1:p.Gln339His
XR_001744658.2:n.1649A>C
XR_001744659.2:n.1762A>C
XR_001744660.2:n.1694A>C
XR_001744661.2:n.1609A>C
XR_927461.3:n.1847A>C
NM_000181.4:c.1842A>C MANE Select	NP_000172.2:p.Gln614His
NM_001284290.2:c.1404A>C	NP_001271219.1:p.Gln468His
NM_001293104.2:c.1272A>C	NP_001280033.1:p.Gln424His
NM_001293105.2:c.1185A>C	NP_001280034.1:p.Gln395His
NR_120531.2:n.1787A>C