Canonical Allele Identifier: CA575259144

Gene: GUSB

Linked Data

• dbSNP Id: rs1444030740
• gnomAD v2: 7-65426069-G-A
• gnomAD v4: 7-65961082-G-A
• COSMIC: COSN24302043
• MyVariant Identifiers: chr7:g.65426069G>A (hg19) ; chr7:g.65961082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961082G>A , CM000669.2:g.65961082G>A	GRCh38
NC_000007.13:g.65426069G>A , CM000669.1:g.65426069G>A	GRCh37
NC_000007.12:g.65063504G>A	NCBI36
NG_016197.1:g.26233C>T
NG_051954.1:g.92984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-19C>T MANE Select	ENSP00000302728.4:n.1790-19C>T
ENST00000304895.8:c.1790-19C>T	ENSP00000302728.4:n.1790-19C>T
ENST00000421103.5:c.1352-19C>T	ENSP00000391390.1:n.1352-19C>T
ENST00000430730.5:c.*1057-19C>T	ENSP00000411859.1:n.*1057-19C>T
ENST00000447929.5:c.*1170-19C>T	ENSP00000411262.1:n.*1170-19C>T
ENST00000466883.5:n.2180-19C>T
NM_000181.3:c.1790-19C>T	NP_000172.2:n.1790-19C>T
NM_001284290.1:c.1352-19C>T	NP_001271219.1:n.1352-19C>T
NM_001293104.1:c.1220-19C>T	NP_001280033.1:n.1220-19C>T
NM_001293105.1:c.1133-19C>T	NP_001280034.1:n.1133-19C>T
NR_120531.1:n.1836-19C>T
XM_005250297.3:c.1637-19C>T	XP_005250354.1:n.1637-19C>T
XM_011516113.1:c.1289-19C>T	XP_011514415.1:n.1289-19C>T
XM_011516114.1:c.1118-19C>T	XP_011514416.1:n.1118-19C>T
XM_005250297.4:c.1637-19C>T	XP_005250354.1:n.1637-19C>T
XM_011516114.2:c.1118-19C>T	XP_011514416.1:n.1118-19C>T
XM_017012091.1:c.1136-19C>T	XP_016867580.1:n.1136-19C>T
XM_017012092.1:c.1067-19C>T	XP_016867581.1:n.1067-19C>T
XM_017012093.2:c.965-19C>T	XP_016867582.1:n.965-19C>T
XR_001744658.2:n.1597-19C>T
XR_001744659.2:n.1710-19C>T
XR_001744660.2:n.1642-19C>T
XR_001744661.2:n.1557-19C>T
XR_927461.3:n.1795-19C>T
NM_000181.4:c.1790-19C>T MANE Select	NP_000172.2:n.1790-19C>T
NM_001284290.2:c.1352-19C>T	NP_001271219.1:n.1352-19C>T
NM_001293104.2:c.1220-19C>T	NP_001280033.1:n.1220-19C>T
NM_001293105.2:c.1133-19C>T	NP_001280034.1:n.1133-19C>T
NR_120531.2:n.1735-19C>T