Canonical Allele Identifier: CA367637418

Gene: GUSB

Linked Data

• dbSNP Id: rs1790453486
• gnomAD v3: 7-65961009-G-A
• gnomAD v4: 7-65961009-G-A
• MyVariant Identifiers: chr7:g.65425996G>A (hg19) ; chr7:g.65961009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961009G>A , CM000669.2:g.65961009G>A	GRCh38
NC_000007.13:g.65425996G>A , CM000669.1:g.65425996G>A	GRCh37
NC_000007.12:g.65063431G>A	NCBI36
NG_016197.1:g.26306C>T
NG_051954.1:g.92911G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1844C>T MANE Select	ENSP00000302728.4:p.Pro615Leu
ENST00000304895.8:c.1844C>T	ENSP00000302728.4:p.Pro615Leu
ENST00000421103.5:c.1406C>T	ENSP00000391390.1:p.Pro469Leu
ENST00000430730.5:c.*1111C>T	ENSP00000411859.1:n.*1111C>T
ENST00000447929.5:c.*1224C>T	ENSP00000411262.1:n.*1224C>T
ENST00000466883.5:n.2234C>T
NM_000181.3:c.1844C>T	NP_000172.2:p.Pro615Leu
NM_001284290.1:c.1406C>T	NP_001271219.1:p.Pro469Leu
NM_001293104.1:c.1274C>T	NP_001280033.1:p.Pro425Leu
NM_001293105.1:c.1187C>T	NP_001280034.1:p.Pro396Leu
NR_120531.1:n.1890C>T
XM_005250297.3:c.1691C>T	XP_005250354.1:p.Pro564Leu
XM_011516113.1:c.1343C>T	XP_011514415.1:p.Pro448Leu
XM_011516114.1:c.1172C>T	XP_011514416.1:p.Pro391Leu
XM_005250297.4:c.1691C>T	XP_005250354.1:p.Pro564Leu
XM_011516114.2:c.1172C>T	XP_011514416.1:p.Pro391Leu
XM_017012091.1:c.1190C>T	XP_016867580.1:p.Pro397Leu
XM_017012092.1:c.1121C>T	XP_016867581.1:p.Pro374Leu
XM_017012093.2:c.1019C>T	XP_016867582.1:p.Pro340Leu
XR_001744658.2:n.1651C>T
XR_001744659.2:n.1764C>T
XR_001744660.2:n.1696C>T
XR_001744661.2:n.1611C>T
XR_927461.3:n.1849C>T
NM_000181.4:c.1844C>T MANE Select	NP_000172.2:p.Pro615Leu
NM_001284290.2:c.1406C>T	NP_001271219.1:p.Pro469Leu
NM_001293104.2:c.1274C>T	NP_001280033.1:p.Pro425Leu
NM_001293105.2:c.1187C>T	NP_001280034.1:p.Pro396Leu
NR_120531.2:n.1789C>T