Canonical Allele Identifier: CA4276129

Gene: GUSB

Linked Data

• dbSNP Id: rs747928978
• ExAC: 7:65425871 G / T
• gnomAD v2: 7-65425871-G-T
• gnomAD v4: 7-65960884-G-T
• MyVariant Identifiers: chr7:g.65425871G>T (hg19) ; chr7:g.65960884G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960884G>T , CM000669.2:g.65960884G>T	GRCh38
NC_000007.13:g.65425871G>T , CM000669.1:g.65425871G>T	GRCh37
NC_000007.12:g.65063306G>T	NCBI36
NG_016197.1:g.26431C>A
NG_051954.1:g.92786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*13C>A MANE Select	ENSP00000302728.4:n.*13C>A
ENST00000304895.8:c.*13C>A	ENSP00000302728.4:n.*13C>A
ENST00000421103.5:c.*13C>A	ENSP00000391390.1:n.*13C>A
ENST00000430730.5:c.*1236C>A	ENSP00000411859.1:n.*1236C>A
ENST00000447929.5:c.*1349C>A	ENSP00000411262.1:n.*1349C>A
ENST00000466883.5:n.2359C>A
NM_000181.3:c.*13C>A	NP_000172.2:n.*13C>A
NM_001284290.1:c.*13C>A	NP_001271219.1:n.*13C>A
NM_001293104.1:c.*13C>A	NP_001280033.1:n.*13C>A
NM_001293105.1:c.*13C>A	NP_001280034.1:n.*13C>A
NR_120531.1:n.2015C>A
XM_005250297.3:c.*13C>A	XP_005250354.1:n.*13C>A
XM_011516113.1:c.*13C>A	XP_011514415.1:n.*13C>A
XM_011516114.1:c.*13C>A	XP_011514416.1:n.*13C>A
XM_005250297.4:c.*13C>A	XP_005250354.1:n.*13C>A
XM_011516114.2:c.*13C>A	XP_011514416.1:n.*13C>A
XM_017012091.1:c.*13C>A	XP_016867580.1:n.*13C>A
XM_017012092.1:c.*13C>A	XP_016867581.1:n.*13C>A
XM_017012093.2:c.*13C>A	XP_016867582.1:n.*13C>A
XR_001744658.2:n.1776C>A
XR_001744659.2:n.1889C>A
XR_001744660.2:n.1821C>A
XR_001744661.2:n.1736C>A
XR_927461.3:n.1974C>A
NM_000181.4:c.*13C>A MANE Select	NP_000172.2:n.*13C>A
NM_001284290.2:c.*13C>A	NP_001271219.1:n.*13C>A
NM_001293104.2:c.*13C>A	NP_001280033.1:n.*13C>A
NM_001293105.2:c.*13C>A	NP_001280034.1:n.*13C>A
NR_120531.2:n.1914C>A