Canonical Allele Identifier: CA367637443

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961013-G-T
• MyVariant Identifiers: chr7:g.65426000G>T (hg19) ; chr7:g.65961013G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961013G>T , CM000669.2:g.65961013G>T	GRCh38
NC_000007.13:g.65426000G>T , CM000669.1:g.65426000G>T	GRCh37
NC_000007.12:g.65063435G>T	NCBI36
NG_016197.1:g.26302C>A
NG_051954.1:g.92915G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1840C>A MANE Select	ENSP00000302728.4:p.Gln614Lys
ENST00000304895.8:c.1840C>A	ENSP00000302728.4:p.Gln614Lys
ENST00000421103.5:c.1402C>A	ENSP00000391390.1:p.Gln468Lys
ENST00000430730.5:c.*1107C>A	ENSP00000411859.1:n.*1107C>A
ENST00000447929.5:c.*1220C>A	ENSP00000411262.1:n.*1220C>A
ENST00000466883.5:n.2230C>A
NM_000181.3:c.1840C>A	NP_000172.2:p.Gln614Lys
NM_001284290.1:c.1402C>A	NP_001271219.1:p.Gln468Lys
NM_001293104.1:c.1270C>A	NP_001280033.1:p.Gln424Lys
NM_001293105.1:c.1183C>A	NP_001280034.1:p.Gln395Lys
NR_120531.1:n.1886C>A
XM_005250297.3:c.1687C>A	XP_005250354.1:p.Gln563Lys
XM_011516113.1:c.1339C>A	XP_011514415.1:p.Gln447Lys
XM_011516114.1:c.1168C>A	XP_011514416.1:p.Gln390Lys
XM_005250297.4:c.1687C>A	XP_005250354.1:p.Gln563Lys
XM_011516114.2:c.1168C>A	XP_011514416.1:p.Gln390Lys
XM_017012091.1:c.1186C>A	XP_016867580.1:p.Gln396Lys
XM_017012092.1:c.1117C>A	XP_016867581.1:p.Gln373Lys
XM_017012093.2:c.1015C>A	XP_016867582.1:p.Gln339Lys
XR_001744658.2:n.1647C>A
XR_001744659.2:n.1760C>A
XR_001744660.2:n.1692C>A
XR_001744661.2:n.1607C>A
XR_927461.3:n.1845C>A
NM_000181.4:c.1840C>A MANE Select	NP_000172.2:p.Gln614Lys
NM_001284290.2:c.1402C>A	NP_001271219.1:p.Gln468Lys
NM_001293104.2:c.1270C>A	NP_001280033.1:p.Gln424Lys
NM_001293105.2:c.1183C>A	NP_001280034.1:p.Gln395Lys
NR_120531.2:n.1785C>A