Canonical Allele Identifier: CA367637501

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426013G>C (hg19) ; chr7:g.65961026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961026G>C , CM000669.2:g.65961026G>C	GRCh38
NC_000007.13:g.65426013G>C , CM000669.1:g.65426013G>C	GRCh37
NC_000007.12:g.65063448G>C	NCBI36
NG_016197.1:g.26289C>G
NG_051954.1:g.92928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1827C>G MANE Select	ENSP00000302728.4:p.Phe609Leu
ENST00000304895.8:c.1827C>G	ENSP00000302728.4:p.Phe609Leu
ENST00000421103.5:c.1389C>G	ENSP00000391390.1:p.Phe463Leu
ENST00000430730.5:c.*1094C>G	ENSP00000411859.1:n.*1094C>G
ENST00000447929.5:c.*1207C>G	ENSP00000411262.1:n.*1207C>G
ENST00000466883.5:n.2217C>G
NM_000181.3:c.1827C>G	NP_000172.2:p.Phe609Leu
NM_001284290.1:c.1389C>G	NP_001271219.1:p.Phe463Leu
NM_001293104.1:c.1257C>G	NP_001280033.1:p.Phe419Leu
NM_001293105.1:c.1170C>G	NP_001280034.1:p.Phe390Leu
NR_120531.1:n.1873C>G
XM_005250297.3:c.1674C>G	XP_005250354.1:p.Phe558Leu
XM_011516113.1:c.1326C>G	XP_011514415.1:p.Phe442Leu
XM_011516114.1:c.1155C>G	XP_011514416.1:p.Phe385Leu
XM_005250297.4:c.1674C>G	XP_005250354.1:p.Phe558Leu
XM_011516114.2:c.1155C>G	XP_011514416.1:p.Phe385Leu
XM_017012091.1:c.1173C>G	XP_016867580.1:p.Phe391Leu
XM_017012092.1:c.1104C>G	XP_016867581.1:p.Phe368Leu
XM_017012093.2:c.1002C>G	XP_016867582.1:p.Phe334Leu
XR_001744658.2:n.1634C>G
XR_001744659.2:n.1747C>G
XR_001744660.2:n.1679C>G
XR_001744661.2:n.1594C>G
XR_927461.3:n.1832C>G
NM_000181.4:c.1827C>G MANE Select	NP_000172.2:p.Phe609Leu
NM_001284290.2:c.1389C>G	NP_001271219.1:p.Phe463Leu
NM_001293104.2:c.1257C>G	NP_001280033.1:p.Phe419Leu
NM_001293105.2:c.1170C>G	NP_001280034.1:p.Phe390Leu
NR_120531.2:n.1772C>G