Canonical Allele Identifier: CA367637752

Gene: GUSB

Linked Data

• dbSNP Id: rs1252769362
• gnomAD v2: 7-65426052-T-A
• gnomAD v3: 7-65961065-T-A
• gnomAD v4: 7-65961065-T-A
• MyVariant Identifiers: chr7:g.65426052T>A (hg19) ; chr7:g.65961065T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961065T>A , CM000669.2:g.65961065T>A	GRCh38
NC_000007.13:g.65426052T>A , CM000669.1:g.65426052T>A	GRCh37
NC_000007.12:g.65063487T>A	NCBI36
NG_016197.1:g.26250A>T
NG_051954.1:g.92967T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-2A>T MANE Select	ENSP00000302728.4:n.1790-2A>T
ENST00000304895.8:c.1790-2A>T	ENSP00000302728.4:n.1790-2A>T
ENST00000421103.5:c.1352-2A>T	ENSP00000391390.1:n.1352-2A>T
ENST00000430730.5:c.*1057-2A>T	ENSP00000411859.1:n.*1057-2A>T
ENST00000447929.5:c.*1170-2A>T	ENSP00000411262.1:n.*1170-2A>T
ENST00000466883.5:n.2180-2A>T
NM_000181.3:c.1790-2A>T	NP_000172.2:n.1790-2A>T
NM_001284290.1:c.1352-2A>T	NP_001271219.1:n.1352-2A>T
NM_001293104.1:c.1220-2A>T	NP_001280033.1:n.1220-2A>T
NM_001293105.1:c.1133-2A>T	NP_001280034.1:n.1133-2A>T
NR_120531.1:n.1836-2A>T
XM_005250297.3:c.1637-2A>T	XP_005250354.1:n.1637-2A>T
XM_011516113.1:c.1289-2A>T	XP_011514415.1:n.1289-2A>T
XM_011516114.1:c.1118-2A>T	XP_011514416.1:n.1118-2A>T
XM_005250297.4:c.1637-2A>T	XP_005250354.1:n.1637-2A>T
XM_011516114.2:c.1118-2A>T	XP_011514416.1:n.1118-2A>T
XM_017012091.1:c.1136-2A>T	XP_016867580.1:n.1136-2A>T
XM_017012092.1:c.1067-2A>T	XP_016867581.1:n.1067-2A>T
XM_017012093.2:c.965-2A>T	XP_016867582.1:n.965-2A>T
XR_001744658.2:n.1597-2A>T
XR_001744659.2:n.1710-2A>T
XR_001744660.2:n.1642-2A>T
XR_001744661.2:n.1557-2A>T
XR_927461.3:n.1795-2A>T
NM_000181.4:c.1790-2A>T MANE Select	NP_000172.2:n.1790-2A>T
NM_001284290.2:c.1352-2A>T	NP_001271219.1:n.1352-2A>T
NM_001293104.2:c.1220-2A>T	NP_001280033.1:n.1220-2A>T
NM_001293105.2:c.1133-2A>T	NP_001280034.1:n.1133-2A>T
NR_120531.2:n.1735-2A>T