Canonical Allele Identifier: CA367637025

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960923-A-G
• MyVariant Identifiers: chr7:g.65425910A>G (hg19) ; chr7:g.65960923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960923A>G , CM000669.2:g.65960923A>G	GRCh38
NC_000007.13:g.65425910A>G , CM000669.1:g.65425910A>G	GRCh37
NC_000007.12:g.65063345A>G	NCBI36
NG_016197.1:g.26392T>C
NG_051954.1:g.92825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1930T>C MANE Select	ENSP00000302728.4:p.Cys644Arg
ENST00000304895.8:c.1930T>C	ENSP00000302728.4:p.Cys644Arg
ENST00000421103.5:c.1492T>C	ENSP00000391390.1:p.Cys498Arg
ENST00000430730.5:c.*1197T>C	ENSP00000411859.1:n.*1197T>C
ENST00000447929.5:c.*1310T>C	ENSP00000411262.1:n.*1310T>C
ENST00000466883.5:n.2320T>C
NM_000181.3:c.1930T>C	NP_000172.2:p.Cys644Arg
NM_001284290.1:c.1492T>C	NP_001271219.1:p.Cys498Arg
NM_001293104.1:c.1360T>C	NP_001280033.1:p.Cys454Arg
NM_001293105.1:c.1273T>C	NP_001280034.1:p.Cys425Arg
NR_120531.1:n.1976T>C
XM_005250297.3:c.1777T>C	XP_005250354.1:p.Cys593Arg
XM_011516113.1:c.1429T>C	XP_011514415.1:p.Cys477Arg
XM_011516114.1:c.1258T>C	XP_011514416.1:p.Cys420Arg
XM_005250297.4:c.1777T>C	XP_005250354.1:p.Cys593Arg
XM_011516114.2:c.1258T>C	XP_011514416.1:p.Cys420Arg
XM_017012091.1:c.1276T>C	XP_016867580.1:p.Cys426Arg
XM_017012092.1:c.1207T>C	XP_016867581.1:p.Cys403Arg
XM_017012093.2:c.1105T>C	XP_016867582.1:p.Cys369Arg
XR_001744658.2:n.1737T>C
XR_001744659.2:n.1850T>C
XR_001744660.2:n.1782T>C
XR_001744661.2:n.1697T>C
XR_927461.3:n.1935T>C
NM_000181.4:c.1930T>C MANE Select	NP_000172.2:p.Cys644Arg
NM_001284290.2:c.1492T>C	NP_001271219.1:p.Cys498Arg
NM_001293104.2:c.1360T>C	NP_001280033.1:p.Cys454Arg
NM_001293105.2:c.1273T>C	NP_001280034.1:p.Cys425Arg
NR_120531.2:n.1875T>C