Canonical Allele Identifier: CA365929304
Gene: UTRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.144451422G>A , CM000668.2:g.144451422G>A GRCh38
NC_000006.11:g.144772558G>A , CM000668.1:g.144772558G>A GRCh37
NC_000006.10:g.144814251G>A NCBI36
NG_042293.1:g.164686G>A

Transcript Alleles

HGVS Amino-acid Change
NM_007124.3:c.2125G>A MANE Select NP_009055.2:p.Ala709Thr
ENST00000367545.8:c.2125G>A MANE Select ENSP00000356515.3:p.Ala709Thr
NM_007124.2:c.2125G>A NP_009055.2:p.Ala709Thr
ENST00000367545.7:c.2125G>A ENSP00000356515.3:p.Ala709Thr
XM_005267127.3:c.2140G>A XP_005267184.1:p.Ala714Thr
XM_005267127.5:c.2140G>A XP_005267184.1:p.Ala714Thr
XM_005267130.1:c.2125G>A XP_005267187.1:p.Ala709Thr
XM_005267130.2:c.2125G>A XP_005267187.1:p.Ala709Thr
XM_005267133.1:c.2098G>A XP_005267190.1:p.Ala700Thr
XM_005267133.3:c.2098G>A XP_005267190.1:p.Ala700Thr
XM_011536101.1:c.2233G>A XP_011534403.1:p.Ala745Thr
XM_011536101.3:c.2233G>A XP_011534403.1:p.Ala745Thr
XM_011536102.1:c.2233G>A XP_011534404.1:p.Ala745Thr
XM_011536102.2:c.2233G>A XP_011534404.1:p.Ala745Thr
XM_011536103.1:c.2233G>A XP_011534405.1:p.Ala745Thr
XM_011536104.1:c.2233G>A XP_011534406.1:p.Ala745Thr
XM_011536105.1:c.2233G>A XP_011534407.1:p.Ala745Thr
XM_011536106.1:c.2125G>A XP_011534408.1:p.Ala709Thr
XM_011536106.2:c.2125G>A XP_011534408.1:p.Ala709Thr
XM_011536107.1:c.2098G>A XP_011534409.1:p.Ala700Thr
XM_011536108.1:c.2233G>A XP_011534410.1:p.Ala745Thr
XM_017011243.2:c.2233G>A XP_016866732.1:p.Ala745Thr
XM_017011244.1:c.2233G>A XP_016866733.1:p.Ala745Thr
XM_017011245.1:c.2233G>A XP_016866734.1:p.Ala745Thr
XM_024446536.1:c.2098G>A XP_024302304.1:p.Ala700Thr