Canonical Allele Identifier: CA133813765
Gene: ADTRP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11774350A>G , CM000668.2:g.11774350A>G GRCh38
NC_000006.11:g.11774583A>G , CM000668.1:g.11774583A>G GRCh37
NC_000006.10:g.11882569A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000414691.8:c.153+4257T>C MANE Select ENSP00000404416.2:n.153+4257T>C
ENST00000229583.9:c.153+4257T>C ENSP00000229583.5:n.153+4257T>C
ENST00000379415.6:c.153+4257T>C ENSP00000368726.2:n.153+4257T>C
ENST00000414691.7:c.153+4257T>C ENSP00000404416.2:n.153+4257T>C
ENST00000485323.2:c.153+4257T>C ENSP00000420956.1:n.153+4257T>C
ENST00000506810.1:c.153+4257T>C ENSP00000422927.1:n.153+4257T>C
NM_001143948.1:c.153+4257T>C NP_001137420.1:n.153+4257T>C
NM_032744.3:c.153+4257T>C NP_116133.1:n.153+4257T>C
XM_005249454.2:c.153+4257T>C XP_005249511.1:n.153+4257T>C
XM_005249455.2:c.153+4257T>C XP_005249512.1:n.153+4257T>C
XM_011514956.1:c.153+4257T>C XP_011513258.1:n.153+4257T>C
XM_011514958.1:c.153+4257T>C XP_011513260.1:n.153+4257T>C
XM_011514959.1:c.153+4257T>C XP_011513261.1:n.153+4257T>C
XR_926322.1:n.466+4257T>C
XM_005249454.3:c.153+4257T>C XP_005249511.1:n.153+4257T>C
XM_011514958.2:c.153+4257T>C XP_011513260.1:n.153+4257T>C
XR_926322.2:n.466+4257T>C
NM_001143948.2:c.153+4257T>C NP_001137420.1:n.153+4257T>C
NM_032744.4:c.153+4257T>C MANE Select NP_116133.1:n.153+4257T>C