Canonical Allele Identifier: CA367654722

Gene: GUSB

Linked Data

• gnomAD v4: 7-65982007-G-C
• MyVariant Identifiers: chr7:g.65446994G>C (hg19) ; chr7:g.65982007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982007G>C , CM000669.2:g.65982007G>C	GRCh38
NC_000007.13:g.65446994G>C , CM000669.1:g.65446994G>C	GRCh37
NC_000007.12:g.65084429G>C	NCBI36
NG_016197.1:g.5308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.177C>G MANE Select	ENSP00000302728.4:p.Phe59Leu
ENST00000304895.8:c.177C>G	ENSP00000302728.4:p.Phe59Leu
ENST00000421103.5:c.177C>G	ENSP00000391390.1:p.Phe59Leu
ENST00000430730.5:c.177C>G	ENSP00000411859.1:p.Phe59Leu
ENST00000446111.1:c.177C>G	ENSP00000416793.1:p.Phe59Leu
ENST00000447929.5:c.177C>G	ENSP00000411262.1:p.Phe59Leu
ENST00000475316.5:n.82C>G
NM_000181.3:c.177C>G	NP_000172.2:p.Phe59Leu
NM_001284290.1:c.177C>G	NP_001271219.1:p.Phe59Leu
NM_001293104.1:c.-209C>G	NP_001280033.1:n.-209C>G
NM_001293105.1:c.-153C>G	NP_001280034.1:n.-153C>G
NR_120531.1:n.308C>G
XM_005250297.3:c.177C>G	XP_005250354.1:p.Phe59Leu
XM_011516113.1:c.-153C>G	XP_011514415.1:n.-153C>G
XR_927461.1:n.303C>G
XM_005250297.4:c.177C>G	XP_005250354.1:p.Phe59Leu
XM_011516114.2:c.-509C>G	XP_011514416.1:n.-509C>G
XM_017012091.1:c.-153C>G	XP_016867580.1:n.-153C>G
XM_017012092.1:c.-209C>G	XP_016867581.1:n.-209C>G
XM_017012093.2:c.-509C>G	XP_016867582.1:n.-509C>G
XR_001744658.2:n.222C>G
XR_001744659.2:n.222C>G
XR_001744660.2:n.222C>G
XR_001744661.2:n.222C>G
XR_927461.3:n.222C>G
NM_000181.4:c.177C>G MANE Select	NP_000172.2:p.Phe59Leu
NM_001284290.2:c.177C>G	NP_001271219.1:p.Phe59Leu
NM_001293104.2:c.-209C>G	NP_001280033.1:n.-209C>G
NM_001293105.2:c.-153C>G	NP_001280034.1:n.-153C>G
NR_120531.2:n.207C>G