Canonical Allele Identifier: CA367654860

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65447014C>G (hg19) ; chr7:g.65982027C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982027C>G , CM000669.2:g.65982027C>G	GRCh38
NC_000007.13:g.65447014C>G , CM000669.1:g.65447014C>G	GRCh37
NC_000007.12:g.65084449C>G	NCBI36
NG_016197.1:g.5288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.157G>C MANE Select	ENSP00000302728.4:p.Asp53His
ENST00000304895.8:c.157G>C	ENSP00000302728.4:p.Asp53His
ENST00000421103.5:c.157G>C	ENSP00000391390.1:p.Asp53His
ENST00000430730.5:c.157G>C	ENSP00000411859.1:p.Asp53His
ENST00000446111.1:c.157G>C	ENSP00000416793.1:p.Asp53His
ENST00000447929.5:c.157G>C	ENSP00000411262.1:p.Asp53His
ENST00000475316.5:n.62G>C
NM_000181.3:c.157G>C	NP_000172.2:p.Asp53His
NM_001284290.1:c.157G>C	NP_001271219.1:p.Asp53His
NM_001293104.1:c.-229G>C	NP_001280033.1:n.-229G>C
NM_001293105.1:c.-173G>C	NP_001280034.1:n.-173G>C
NR_120531.1:n.288G>C
XM_005250297.3:c.157G>C	XP_005250354.1:p.Asp53His
XM_011516113.1:c.-173G>C	XP_011514415.1:n.-173G>C
XR_927461.1:n.283G>C
XM_005250297.4:c.157G>C	XP_005250354.1:p.Asp53His
XM_011516114.2:c.-529G>C	XP_011514416.1:n.-529G>C
XM_017012091.1:c.-173G>C	XP_016867580.1:n.-173G>C
XM_017012092.1:c.-229G>C	XP_016867581.1:n.-229G>C
XM_017012093.2:c.-529G>C	XP_016867582.1:n.-529G>C
XR_001744658.2:n.202G>C
XR_001744659.2:n.202G>C
XR_001744660.2:n.202G>C
XR_001744661.2:n.202G>C
XR_927461.3:n.202G>C
NM_000181.4:c.157G>C MANE Select	NP_000172.2:p.Asp53His
NM_001284290.2:c.157G>C	NP_001271219.1:p.Asp53His
NM_001293104.2:c.-229G>C	NP_001280033.1:n.-229G>C
NM_001293105.2:c.-173G>C	NP_001280034.1:n.-173G>C
NR_120531.2:n.187G>C