Canonical Allele Identifier: CA367637359

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425985C>G (hg19) ; chr7:g.65960998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960998C>G , CM000669.2:g.65960998C>G	GRCh38
NC_000007.13:g.65425985C>G , CM000669.1:g.65425985C>G	GRCh37
NC_000007.12:g.65063420C>G	NCBI36
NG_016197.1:g.26317G>C
NG_051954.1:g.92900C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1855G>C MANE Select	ENSP00000302728.4:p.Ala619Pro
ENST00000304895.8:c.1855G>C	ENSP00000302728.4:p.Ala619Pro
ENST00000421103.5:c.1417G>C	ENSP00000391390.1:p.Ala473Pro
ENST00000430730.5:c.*1122G>C	ENSP00000411859.1:n.*1122G>C
ENST00000447929.5:c.*1235G>C	ENSP00000411262.1:n.*1235G>C
ENST00000466883.5:n.2245G>C
NM_000181.3:c.1855G>C	NP_000172.2:p.Ala619Pro
NM_001284290.1:c.1417G>C	NP_001271219.1:p.Ala473Pro
NM_001293104.1:c.1285G>C	NP_001280033.1:p.Ala429Pro
NM_001293105.1:c.1198G>C	NP_001280034.1:p.Ala400Pro
NR_120531.1:n.1901G>C
XM_005250297.3:c.1702G>C	XP_005250354.1:p.Ala568Pro
XM_011516113.1:c.1354G>C	XP_011514415.1:p.Ala452Pro
XM_011516114.1:c.1183G>C	XP_011514416.1:p.Ala395Pro
XM_005250297.4:c.1702G>C	XP_005250354.1:p.Ala568Pro
XM_011516114.2:c.1183G>C	XP_011514416.1:p.Ala395Pro
XM_017012091.1:c.1201G>C	XP_016867580.1:p.Ala401Pro
XM_017012092.1:c.1132G>C	XP_016867581.1:p.Ala378Pro
XM_017012093.2:c.1030G>C	XP_016867582.1:p.Ala344Pro
XR_001744658.2:n.1662G>C
XR_001744659.2:n.1775G>C
XR_001744660.2:n.1707G>C
XR_001744661.2:n.1622G>C
XR_927461.3:n.1860G>C
NM_000181.4:c.1855G>C MANE Select	NP_000172.2:p.Ala619Pro
NM_001284290.2:c.1417G>C	NP_001271219.1:p.Ala473Pro
NM_001293104.2:c.1285G>C	NP_001280033.1:p.Ala429Pro
NM_001293105.2:c.1198G>C	NP_001280034.1:p.Ala400Pro
NR_120531.2:n.1800G>C