Canonical Allele Identifier: CA647916

Gene: UBR4

Linked Data

• dbSNP Id: rs749581631
• ExAC: 1:19404500 G / C
• gnomAD v2: 1-19404500-G-C
• gnomAD v3: 1-19078006-G-C
• gnomAD v4: 1-19078006-G-C
• MyVariant Identifiers: chr1:g.19404500G>C (hg19) ; chr1:g.19078006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078006G>C , CM000663.2:g.19078006G>C	GRCh38
NC_000001.10:g.19404500G>C , CM000663.1:g.19404500G>C	GRCh37
NC_000001.9:g.19277087G>C	NCBI36
NG_027669.1:g.137247C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15294C>G MANE Select	ENSP00000364403.3:p.Ala5098=
ENST00000375224.1:c.2415C>G	ENSP00000364372.1:p.Ala805=
ENST00000375225.7:c.519C>G	ENSP00000364373.3:p.Ala173=
ENST00000375254.7:c.15294C>G	ENSP00000364403.3:p.Ala5098=
ENST00000459947.5:n.3301C>G
NM_020765.2:c.15294C>G	NP_065816.2:p.Ala5098=
XM_011541108.1:c.15447C>G	XP_011539410.1:p.Ala5149=
XM_011541109.1:c.15444C>G	XP_011539411.1:p.Ala5148=
XM_011541110.1:c.15444C>G	XP_011539412.1:p.Ala5148=
XM_011541111.1:c.15444C>G	XP_011539413.1:p.Ala5148=
XM_011541112.1:c.15432C>G	XP_011539414.1:p.Ala5144=
XM_011541113.1:c.15429C>G	XP_011539415.1:p.Ala5143=
XM_011541114.1:c.15429C>G	XP_011539416.1:p.Ala5143=
XM_011541115.1:c.15423C>G	XP_011539417.1:p.Ala5141=
XM_011541116.1:c.15414C>G	XP_011539418.1:p.Ala5138=
XM_011541117.1:c.15363C>G	XP_011539419.1:p.Ala5121=
XM_011541118.1:c.15360C>G	XP_011539420.1:p.Ala5120=
XM_011541119.1:c.15327C>G	XP_011539421.1:p.Ala5109=
XM_011541120.1:c.15324C>G	XP_011539422.1:p.Ala5108=
XM_011541121.1:c.15291C>G	XP_011539423.1:p.Ala5097=
XM_011541108.3:c.15561C>G	XP_011539410.2:p.Ala5187=
XM_011541109.3:c.15558C>G	XP_011539411.2:p.Ala5186=
XM_011541110.3:c.15558C>G	XP_011539412.2:p.Ala5186=
XM_011541111.3:c.15558C>G	XP_011539413.2:p.Ala5186=
XM_011541112.3:c.15546C>G	XP_011539414.2:p.Ala5182=
XM_011541113.3:c.15543C>G	XP_011539415.2:p.Ala5181=
XM_011541114.3:c.15543C>G	XP_011539416.2:p.Ala5181=
XM_011541115.3:c.15537C>G	XP_011539417.2:p.Ala5179=
XM_011541116.3:c.15528C>G	XP_011539418.2:p.Ala5176=
XM_011541117.3:c.15477C>G	XP_011539419.2:p.Ala5159=
XM_011541118.3:c.15474C>G	XP_011539420.2:p.Ala5158=
XM_011541119.3:c.15441C>G	XP_011539421.2:p.Ala5147=
XM_011541120.3:c.15438C>G	XP_011539422.2:p.Ala5146=
XM_011541121.3:c.15405C>G	XP_011539423.2:p.Ala5135=
XM_017000822.2:c.15540C>G	XP_016856311.2:p.Ala5180=
XM_017000823.2:c.15513C>G	XP_016856312.2:p.Ala5171=
XM_017000824.2:c.15459C>G	XP_016856313.2:p.Ala5153=
XM_017000825.2:c.15444C>G	XP_016856314.2:p.Ala5148=
XM_017000826.2:c.15441C>G	XP_016856315.2:p.Ala5147=
XM_017000827.2:c.15426C>G	XP_016856316.2:p.Ala5142=
XM_017000828.2:c.15402C>G	XP_016856317.2:p.Ala5134=
XM_017000829.2:c.15354C>G	XP_016856318.2:p.Ala5118=
XM_017000830.2:c.15303C>G	XP_016856319.2:p.Ala5101=
NM_020765.3:c.15294C>G MANE Select	NP_065816.2:p.Ala5098=