Canonical Allele Identifier: CA367655602

Gene: GUSB

Linked Data

• gnomAD v4: 7-65982140-A-G
• MyVariant Identifiers: chr7:g.65447127A>G (hg19) ; chr7:g.65982140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982140A>G , CM000669.2:g.65982140A>G	GRCh38
NC_000007.13:g.65447127A>G , CM000669.1:g.65447127A>G	GRCh37
NC_000007.12:g.65084562A>G	NCBI36
NG_016197.1:g.5175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.44T>C MANE Select	ENSP00000302728.4:p.Leu15Ser
ENST00000304895.8:c.44T>C	ENSP00000302728.4:p.Leu15Ser
ENST00000421103.5:c.44T>C	ENSP00000391390.1:p.Leu15Ser
ENST00000430730.5:c.44T>C	ENSP00000411859.1:p.Leu15Ser
ENST00000446111.1:c.44T>C	ENSP00000416793.1:p.Leu15Ser
ENST00000447929.5:c.44T>C	ENSP00000411262.1:p.Leu15Ser
NM_000181.3:c.44T>C	NP_000172.2:p.Leu15Ser
NM_001284290.1:c.44T>C	NP_001271219.1:p.Leu15Ser
NM_001293104.1:c.-342T>C	NP_001280033.1:n.-342T>C
NM_001293105.1:c.-286T>C	NP_001280034.1:n.-286T>C
NR_120531.1:n.175T>C
XM_005250297.3:c.44T>C	XP_005250354.1:p.Leu15Ser
XM_011516113.1:c.-286T>C	XP_011514415.1:n.-286T>C
XR_927461.1:n.170T>C
XM_005250297.4:c.44T>C	XP_005250354.1:p.Leu15Ser
XM_011516114.2:c.-642T>C	XP_011514416.1:n.-642T>C
XM_017012091.1:c.-286T>C	XP_016867580.1:n.-286T>C
XM_017012092.1:c.-342T>C	XP_016867581.1:n.-342T>C
XM_017012093.2:c.-642T>C	XP_016867582.1:n.-642T>C
XR_001744658.2:n.89T>C
XR_001744659.2:n.89T>C
XR_001744660.2:n.89T>C
XR_001744661.2:n.89T>C
XR_927461.3:n.89T>C
NM_000181.4:c.44T>C MANE Select	NP_000172.2:p.Leu15Ser
NM_001284290.2:c.44T>C	NP_001271219.1:p.Leu15Ser
NM_001293104.2:c.-342T>C	NP_001280033.1:n.-342T>C
NM_001293105.2:c.-286T>C	NP_001280034.1:n.-286T>C
NR_120531.2:n.74T>C