Canonical Allele Identifier: CA367637188

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960960-A-C
• MyVariant Identifiers: chr7:g.65425947A>C (hg19) ; chr7:g.65960960A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960960A>C , CM000669.2:g.65960960A>C	GRCh38
NC_000007.13:g.65425947A>C , CM000669.1:g.65425947A>C	GRCh37
NC_000007.12:g.65063382A>C	NCBI36
NG_016197.1:g.26355T>G
NG_051954.1:g.92862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1893T>G MANE Select	ENSP00000302728.4:p.Asn631Lys
ENST00000304895.8:c.1893T>G	ENSP00000302728.4:p.Asn631Lys
ENST00000421103.5:c.1455T>G	ENSP00000391390.1:p.Asn485Lys
ENST00000430730.5:c.*1160T>G	ENSP00000411859.1:n.*1160T>G
ENST00000447929.5:c.*1273T>G	ENSP00000411262.1:n.*1273T>G
ENST00000466883.5:n.2283T>G
NM_000181.3:c.1893T>G	NP_000172.2:p.Asn631Lys
NM_001284290.1:c.1455T>G	NP_001271219.1:p.Asn485Lys
NM_001293104.1:c.1323T>G	NP_001280033.1:p.Asn441Lys
NM_001293105.1:c.1236T>G	NP_001280034.1:p.Asn412Lys
NR_120531.1:n.1939T>G
XM_005250297.3:c.1740T>G	XP_005250354.1:p.Asn580Lys
XM_011516113.1:c.1392T>G	XP_011514415.1:p.Asn464Lys
XM_011516114.1:c.1221T>G	XP_011514416.1:p.Asn407Lys
XM_005250297.4:c.1740T>G	XP_005250354.1:p.Asn580Lys
XM_011516114.2:c.1221T>G	XP_011514416.1:p.Asn407Lys
XM_017012091.1:c.1239T>G	XP_016867580.1:p.Asn413Lys
XM_017012092.1:c.1170T>G	XP_016867581.1:p.Asn390Lys
XM_017012093.2:c.1068T>G	XP_016867582.1:p.Asn356Lys
XR_001744658.2:n.1700T>G
XR_001744659.2:n.1813T>G
XR_001744660.2:n.1745T>G
XR_001744661.2:n.1660T>G
XR_927461.3:n.1898T>G
NM_000181.4:c.1893T>G MANE Select	NP_000172.2:p.Asn631Lys
NM_001284290.2:c.1455T>G	NP_001271219.1:p.Asn485Lys
NM_001293104.2:c.1323T>G	NP_001280033.1:p.Asn441Lys
NM_001293105.2:c.1236T>G	NP_001280034.1:p.Asn412Lys
NR_120531.2:n.1838T>G