Canonical Allele Identifier: CA647908

Gene: UBR4

Linked Data

• dbSNP Id: rs757977439
• ExAC: 1:19404477 A / G
• gnomAD v2: 1-19404477-A-G
• gnomAD v3: 1-19077983-A-G
• gnomAD v4: 1-19077983-A-G
• MyVariant Identifiers: chr1:g.19404477A>G (hg19) ; chr1:g.19077983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19077983A>G , CM000663.2:g.19077983A>G	GRCh38
NC_000001.10:g.19404477A>G , CM000663.1:g.19404477A>G	GRCh37
NC_000001.9:g.19277064A>G	NCBI36
NG_027669.1:g.137270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15317T>C MANE Select	ENSP00000364403.3:p.Met5106Thr
ENST00000375224.1:c.2438T>C	ENSP00000364372.1:p.Met813Thr
ENST00000375225.7:c.542T>C	ENSP00000364373.3:p.Met181Thr
ENST00000375254.7:c.15317T>C	ENSP00000364403.3:p.Met5106Thr
ENST00000459947.5:n.3324T>C
NM_020765.2:c.15317T>C	NP_065816.2:p.Met5106Thr
XM_011541108.1:c.15470T>C	XP_011539410.1:p.Met5157Thr
XM_011541109.1:c.15467T>C	XP_011539411.1:p.Met5156Thr
XM_011541110.1:c.15467T>C	XP_011539412.1:p.Met5156Thr
XM_011541111.1:c.15467T>C	XP_011539413.1:p.Met5156Thr
XM_011541112.1:c.15455T>C	XP_011539414.1:p.Met5152Thr
XM_011541113.1:c.15452T>C	XP_011539415.1:p.Met5151Thr
XM_011541114.1:c.15452T>C	XP_011539416.1:p.Met5151Thr
XM_011541115.1:c.15446T>C	XP_011539417.1:p.Met5149Thr
XM_011541116.1:c.15437T>C	XP_011539418.1:p.Met5146Thr
XM_011541117.1:c.15386T>C	XP_011539419.1:p.Met5129Thr
XM_011541118.1:c.15383T>C	XP_011539420.1:p.Met5128Thr
XM_011541119.1:c.15350T>C	XP_011539421.1:p.Met5117Thr
XM_011541120.1:c.15347T>C	XP_011539422.1:p.Met5116Thr
XM_011541121.1:c.15314T>C	XP_011539423.1:p.Met5105Thr
XM_011541108.3:c.15584T>C	XP_011539410.2:p.Met5195Thr
XM_011541109.3:c.15581T>C	XP_011539411.2:p.Met5194Thr
XM_011541110.3:c.15581T>C	XP_011539412.2:p.Met5194Thr
XM_011541111.3:c.15581T>C	XP_011539413.2:p.Met5194Thr
XM_011541112.3:c.15569T>C	XP_011539414.2:p.Met5190Thr
XM_011541113.3:c.15566T>C	XP_011539415.2:p.Met5189Thr
XM_011541114.3:c.15566T>C	XP_011539416.2:p.Met5189Thr
XM_011541115.3:c.15560T>C	XP_011539417.2:p.Met5187Thr
XM_011541116.3:c.15551T>C	XP_011539418.2:p.Met5184Thr
XM_011541117.3:c.15500T>C	XP_011539419.2:p.Met5167Thr
XM_011541118.3:c.15497T>C	XP_011539420.2:p.Met5166Thr
XM_011541119.3:c.15464T>C	XP_011539421.2:p.Met5155Thr
XM_011541120.3:c.15461T>C	XP_011539422.2:p.Met5154Thr
XM_011541121.3:c.15428T>C	XP_011539423.2:p.Met5143Thr
XM_017000822.2:c.15563T>C	XP_016856311.2:p.Met5188Thr
XM_017000823.2:c.15536T>C	XP_016856312.2:p.Met5179Thr
XM_017000824.2:c.15482T>C	XP_016856313.2:p.Met5161Thr
XM_017000825.2:c.15467T>C	XP_016856314.2:p.Met5156Thr
XM_017000826.2:c.15464T>C	XP_016856315.2:p.Met5155Thr
XM_017000827.2:c.15449T>C	XP_016856316.2:p.Met5150Thr
XM_017000828.2:c.15425T>C	XP_016856317.2:p.Met5142Thr
XM_017000829.2:c.15377T>C	XP_016856318.2:p.Met5126Thr
XM_017000830.2:c.15326T>C	XP_016856319.2:p.Met5109Thr
NM_020765.3:c.15317T>C MANE Select	NP_065816.2:p.Met5106Thr