Canonical Allele Identifier: CA575259160

Gene: GUSB

Linked Data

• dbSNP Id: rs1212424373
• gnomAD v2: 7-65425680-G-A
• gnomAD v3: 7-65960693-G-A
• gnomAD v4: 7-65960693-G-A
• MyVariant Identifiers: chr7:g.65425680G>A (hg19) ; chr7:g.65960693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960693G>A , CM000669.2:g.65960693G>A	GRCh38
NC_000007.13:g.65425680G>A , CM000669.1:g.65425680G>A	GRCh37
NC_000007.12:g.65063115G>A	NCBI36
NG_016197.1:g.26622C>T
NG_051954.1:g.92595G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.*204C>T MANE Select	ENSP00000302728.4:n.*204C>T
ENST00000304895.8:c.*204C>T	ENSP00000302728.4:n.*204C>T
ENST00000466883.5:n.2550C>T
NM_000181.3:c.*204C>T	NP_000172.2:n.*204C>T
NM_001284290.1:c.*204C>T	NP_001271219.1:n.*204C>T
NM_001293104.1:c.*204C>T	NP_001280033.1:n.*204C>T
NM_001293105.1:c.*204C>T	NP_001280034.1:n.*204C>T
NR_120531.1:n.2206C>T
XM_005250297.3:c.*204C>T	XP_005250354.1:n.*204C>T
XM_011516113.1:c.*204C>T	XP_011514415.1:n.*204C>T
XM_011516114.1:c.*204C>T	XP_011514416.1:n.*204C>T
XM_005250297.4:c.*204C>T	XP_005250354.1:n.*204C>T
XM_011516114.2:c.*204C>T	XP_011514416.1:n.*204C>T
XM_017012091.1:c.*204C>T	XP_016867580.1:n.*204C>T
XM_017012092.1:c.*204C>T	XP_016867581.1:n.*204C>T
XM_017012093.2:c.*204C>T	XP_016867582.1:n.*204C>T
XR_001744658.2:n.1967C>T
XR_001744659.2:n.2080C>T
NM_000181.4:c.*204C>T MANE Select	NP_000172.2:n.*204C>T
NM_001284290.2:c.*204C>T	NP_001271219.1:n.*204C>T
NM_001293104.2:c.*204C>T	NP_001280033.1:n.*204C>T
NM_001293105.2:c.*204C>T	NP_001280034.1:n.*204C>T
NR_120531.2:n.2105C>T