Canonical Allele Identifier: CA367637352

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425984G>C (hg19) ; chr7:g.65960997G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960997G>C , CM000669.2:g.65960997G>C	GRCh38
NC_000007.13:g.65425984G>C , CM000669.1:g.65425984G>C	GRCh37
NC_000007.12:g.65063419G>C	NCBI36
NG_016197.1:g.26318C>G
NG_051954.1:g.92899G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1856C>G MANE Select	ENSP00000302728.4:p.Ala619Gly
ENST00000304895.8:c.1856C>G	ENSP00000302728.4:p.Ala619Gly
ENST00000421103.5:c.1418C>G	ENSP00000391390.1:p.Ala473Gly
ENST00000430730.5:c.*1123C>G	ENSP00000411859.1:n.*1123C>G
ENST00000447929.5:c.*1236C>G	ENSP00000411262.1:n.*1236C>G
ENST00000466883.5:n.2246C>G
NM_000181.3:c.1856C>G	NP_000172.2:p.Ala619Gly
NM_001284290.1:c.1418C>G	NP_001271219.1:p.Ala473Gly
NM_001293104.1:c.1286C>G	NP_001280033.1:p.Ala429Gly
NM_001293105.1:c.1199C>G	NP_001280034.1:p.Ala400Gly
NR_120531.1:n.1902C>G
XM_005250297.3:c.1703C>G	XP_005250354.1:p.Ala568Gly
XM_011516113.1:c.1355C>G	XP_011514415.1:p.Ala452Gly
XM_011516114.1:c.1184C>G	XP_011514416.1:p.Ala395Gly
XM_005250297.4:c.1703C>G	XP_005250354.1:p.Ala568Gly
XM_011516114.2:c.1184C>G	XP_011514416.1:p.Ala395Gly
XM_017012091.1:c.1202C>G	XP_016867580.1:p.Ala401Gly
XM_017012092.1:c.1133C>G	XP_016867581.1:p.Ala378Gly
XM_017012093.2:c.1031C>G	XP_016867582.1:p.Ala344Gly
XR_001744658.2:n.1663C>G
XR_001744659.2:n.1776C>G
XR_001744660.2:n.1708C>G
XR_001744661.2:n.1623C>G
XR_927461.3:n.1861C>G
NM_000181.4:c.1856C>G MANE Select	NP_000172.2:p.Ala619Gly
NM_001284290.2:c.1418C>G	NP_001271219.1:p.Ala473Gly
NM_001293104.2:c.1286C>G	NP_001280033.1:p.Ala429Gly
NM_001293105.2:c.1199C>G	NP_001280034.1:p.Ala400Gly
NR_120531.2:n.1801C>G