Canonical Allele Identifier: CA367640207

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967836-C-A
• MyVariant Identifiers: chr7:g.65432823C>A (hg19) ; chr7:g.65967836C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967836C>A , CM000669.2:g.65967836C>A	GRCh38
NC_000007.13:g.65432823C>A , CM000669.1:g.65432823C>A	GRCh37
NC_000007.12:g.65070258C>A	NCBI36
NG_016197.1:g.19479G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1548G>T MANE Select	ENSP00000302728.4:p.Leu516Phe
ENST00000304895.8:c.1548G>T	ENSP00000302728.4:p.Leu516Phe
ENST00000421103.5:c.1110G>T	ENSP00000391390.1:p.Leu370Phe
ENST00000430730.5:c.*815G>T	ENSP00000411859.1:n.*815G>T
ENST00000447929.5:c.*928G>T	ENSP00000411262.1:n.*928G>T
ENST00000461622.1:n.73G>T
ENST00000462371.1:n.586G>T
ENST00000466883.5:n.1938G>T
NM_000181.3:c.1548G>T	NP_000172.2:p.Leu516Phe
NM_001284290.1:c.1110G>T	NP_001271219.1:p.Leu370Phe
NM_001293104.1:c.978G>T	NP_001280033.1:p.Leu326Phe
NM_001293105.1:c.891G>T	NP_001280034.1:p.Leu297Phe
NR_120531.1:n.1594G>T
XM_005250297.3:c.1395G>T	XP_005250354.1:p.Leu465Phe
XM_011516113.1:c.1047G>T	XP_011514415.1:p.Leu349Phe
XM_011516114.1:c.876G>T	XP_011514416.1:p.Leu292Phe
XR_927461.1:n.1634G>T
XM_005250297.4:c.1395G>T	XP_005250354.1:p.Leu465Phe
XM_011516114.2:c.876G>T	XP_011514416.1:p.Leu292Phe
XM_017012091.1:c.894G>T	XP_016867580.1:p.Leu298Phe
XM_017012092.1:c.825G>T	XP_016867581.1:p.Leu275Phe
XM_017012093.2:c.723G>T	XP_016867582.1:p.Leu241Phe
XR_001744658.2:n.1355G>T
XR_001744659.2:n.1468G>T
XR_001744660.2:n.1400G>T
XR_001744661.2:n.1315G>T
XR_927461.3:n.1553G>T
NM_000181.4:c.1548G>T MANE Select	NP_000172.2:p.Leu516Phe
NM_001284290.2:c.1110G>T	NP_001271219.1:p.Leu370Phe
NM_001293104.2:c.978G>T	NP_001280033.1:p.Leu326Phe
NM_001293105.2:c.891G>T	NP_001280034.1:p.Leu297Phe
NR_120531.2:n.1493G>T