Canonical Allele Identifier: CA2578782631
Gene: GTF2H5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158191907T>G , CM000668.2:g.158191907T>G GRCh38
NC_000006.11:g.158612939T>G , CM000668.1:g.158612939T>G GRCh37
NC_000006.10:g.158532927T>G NCBI36
NG_011758.1:g.28561T>G , LRG_469:g.28561T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684993.1:n.95-70T>G
ENST00000689018.1:n.41-1303T>G
ENST00000689809.1:c.36-70T>G ENSP00000510752.1:n.36-70T>G
ENST00000691867.1:c.36-70T>G ENSP00000510706.1:n.36-70T>G
ENST00000607778.2:c.36-70T>G MANE Select ENSP00000476100.1:n.36-70T>G
ENST00000648328.1:c.*1-70T>G ENSP00000497338.1:n.*1-70T>G
ENST00000607778.1:c.36-70T>G ENSP00000476100.1:n.36-70T>G
NM_207118.2:c.36-70T>G , LRG_469t1:c.36-70T>G NP_997001.1:n.36-70T>G
XM_017010862.1:c.66-70T>G XP_016866351.1:n.66-70T>G
NM_207118.3:c.36-70T>G MANE Select NP_997001.1:n.36-70T>G
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