Canonical Allele Identifier: CA367637201

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425951G>A (hg19) ; chr7:g.65960964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960964G>A , CM000669.2:g.65960964G>A	GRCh38
NC_000007.13:g.65425951G>A , CM000669.1:g.65425951G>A	GRCh37
NC_000007.12:g.65063386G>A	NCBI36
NG_016197.1:g.26351C>T
NG_051954.1:g.92866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1889C>T MANE Select	ENSP00000302728.4:p.Ala630Val
ENST00000304895.8:c.1889C>T	ENSP00000302728.4:p.Ala630Val
ENST00000421103.5:c.1451C>T	ENSP00000391390.1:p.Ala484Val
ENST00000430730.5:c.*1156C>T	ENSP00000411859.1:n.*1156C>T
ENST00000447929.5:c.*1269C>T	ENSP00000411262.1:n.*1269C>T
ENST00000466883.5:n.2279C>T
NM_000181.3:c.1889C>T	NP_000172.2:p.Ala630Val
NM_001284290.1:c.1451C>T	NP_001271219.1:p.Ala484Val
NM_001293104.1:c.1319C>T	NP_001280033.1:p.Ala440Val
NM_001293105.1:c.1232C>T	NP_001280034.1:p.Ala411Val
NR_120531.1:n.1935C>T
XM_005250297.3:c.1736C>T	XP_005250354.1:p.Ala579Val
XM_011516113.1:c.1388C>T	XP_011514415.1:p.Ala463Val
XM_011516114.1:c.1217C>T	XP_011514416.1:p.Ala406Val
XM_005250297.4:c.1736C>T	XP_005250354.1:p.Ala579Val
XM_011516114.2:c.1217C>T	XP_011514416.1:p.Ala406Val
XM_017012091.1:c.1235C>T	XP_016867580.1:p.Ala412Val
XM_017012092.1:c.1166C>T	XP_016867581.1:p.Ala389Val
XM_017012093.2:c.1064C>T	XP_016867582.1:p.Ala355Val
XR_001744658.2:n.1696C>T
XR_001744659.2:n.1809C>T
XR_001744660.2:n.1741C>T
XR_001744661.2:n.1656C>T
XR_927461.3:n.1894C>T
NM_000181.4:c.1889C>T MANE Select	NP_000172.2:p.Ala630Val
NM_001284290.2:c.1451C>T	NP_001271219.1:p.Ala484Val
NM_001293104.2:c.1319C>T	NP_001280033.1:p.Ala440Val
NM_001293105.2:c.1232C>T	NP_001280034.1:p.Ala411Val
NR_120531.2:n.1834C>T