Canonical Allele Identifier: CA367637022

Gene: GUSB

Linked Data

• dbSNP Id: rs1790443430
• MyVariant Identifiers: chr7:g.65425909C>A (hg19) ; chr7:g.65960922C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960922C>A , CM000669.2:g.65960922C>A	GRCh38
NC_000007.13:g.65425909C>A , CM000669.1:g.65425909C>A	GRCh37
NC_000007.12:g.65063344C>A	NCBI36
NG_016197.1:g.26393G>T
NG_051954.1:g.92824C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1931G>T MANE Select	ENSP00000302728.4:p.Cys644Phe
ENST00000304895.8:c.1931G>T	ENSP00000302728.4:p.Cys644Phe
ENST00000421103.5:c.1493G>T	ENSP00000391390.1:p.Cys498Phe
ENST00000430730.5:c.*1198G>T	ENSP00000411859.1:n.*1198G>T
ENST00000447929.5:c.*1311G>T	ENSP00000411262.1:n.*1311G>T
ENST00000466883.5:n.2321G>T
NM_000181.3:c.1931G>T	NP_000172.2:p.Cys644Phe
NM_001284290.1:c.1493G>T	NP_001271219.1:p.Cys498Phe
NM_001293104.1:c.1361G>T	NP_001280033.1:p.Cys454Phe
NM_001293105.1:c.1274G>T	NP_001280034.1:p.Cys425Phe
NR_120531.1:n.1977G>T
XM_005250297.3:c.1778G>T	XP_005250354.1:p.Cys593Phe
XM_011516113.1:c.1430G>T	XP_011514415.1:p.Cys477Phe
XM_011516114.1:c.1259G>T	XP_011514416.1:p.Cys420Phe
XM_005250297.4:c.1778G>T	XP_005250354.1:p.Cys593Phe
XM_011516114.2:c.1259G>T	XP_011514416.1:p.Cys420Phe
XM_017012091.1:c.1277G>T	XP_016867580.1:p.Cys426Phe
XM_017012092.1:c.1208G>T	XP_016867581.1:p.Cys403Phe
XM_017012093.2:c.1106G>T	XP_016867582.1:p.Cys369Phe
XR_001744658.2:n.1738G>T
XR_001744659.2:n.1851G>T
XR_001744660.2:n.1783G>T
XR_001744661.2:n.1698G>T
XR_927461.3:n.1936G>T
NM_000181.4:c.1931G>T MANE Select	NP_000172.2:p.Cys644Phe
NM_001284290.2:c.1493G>T	NP_001271219.1:p.Cys498Phe
NM_001293104.2:c.1361G>T	NP_001280033.1:p.Cys454Phe
NM_001293105.2:c.1274G>T	NP_001280034.1:p.Cys425Phe
NR_120531.2:n.1876G>T