Canonical Allele Identifier: CA367637439

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425999T>G (hg19) ; chr7:g.65961012T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961012T>G , CM000669.2:g.65961012T>G	GRCh38
NC_000007.13:g.65425999T>G , CM000669.1:g.65425999T>G	GRCh37
NC_000007.12:g.65063434T>G	NCBI36
NG_016197.1:g.26303A>C
NG_051954.1:g.92914T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1841A>C MANE Select	ENSP00000302728.4:p.Gln614Pro
ENST00000304895.8:c.1841A>C	ENSP00000302728.4:p.Gln614Pro
ENST00000421103.5:c.1403A>C	ENSP00000391390.1:p.Gln468Pro
ENST00000430730.5:c.*1108A>C	ENSP00000411859.1:n.*1108A>C
ENST00000447929.5:c.*1221A>C	ENSP00000411262.1:n.*1221A>C
ENST00000466883.5:n.2231A>C
NM_000181.3:c.1841A>C	NP_000172.2:p.Gln614Pro
NM_001284290.1:c.1403A>C	NP_001271219.1:p.Gln468Pro
NM_001293104.1:c.1271A>C	NP_001280033.1:p.Gln424Pro
NM_001293105.1:c.1184A>C	NP_001280034.1:p.Gln395Pro
NR_120531.1:n.1887A>C
XM_005250297.3:c.1688A>C	XP_005250354.1:p.Gln563Pro
XM_011516113.1:c.1340A>C	XP_011514415.1:p.Gln447Pro
XM_011516114.1:c.1169A>C	XP_011514416.1:p.Gln390Pro
XM_005250297.4:c.1688A>C	XP_005250354.1:p.Gln563Pro
XM_011516114.2:c.1169A>C	XP_011514416.1:p.Gln390Pro
XM_017012091.1:c.1187A>C	XP_016867580.1:p.Gln396Pro
XM_017012092.1:c.1118A>C	XP_016867581.1:p.Gln373Pro
XM_017012093.2:c.1016A>C	XP_016867582.1:p.Gln339Pro
XR_001744658.2:n.1648A>C
XR_001744659.2:n.1761A>C
XR_001744660.2:n.1693A>C
XR_001744661.2:n.1608A>C
XR_927461.3:n.1846A>C
NM_000181.4:c.1841A>C MANE Select	NP_000172.2:p.Gln614Pro
NM_001284290.2:c.1403A>C	NP_001271219.1:p.Gln468Pro
NM_001293104.2:c.1271A>C	NP_001280033.1:p.Gln424Pro
NM_001293105.2:c.1184A>C	NP_001280034.1:p.Gln395Pro
NR_120531.2:n.1786A>C