Canonical Allele Identifier: CA366250865
Community Standard Title: NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys)
Gene: GTF2H5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158170532T>A , CM000668.2:g.158170532T>A GRCh38
NC_000006.11:g.158591564T>A , CM000668.1:g.158591564T>A GRCh37
NC_000006.10:g.158511552T>A NCBI36
NG_011758.1:g.7186T>A , LRG_469:g.7186T>A
NG_032889.1:g.2749A>T

Transcript Alleles

HGVS Amino-acid Change
NM_207118.3:c.29T>A MANE Select NP_997001.1:p.Ile10Lys
ENST00000607778.2:c.29T>A MANE Select ENSP00000476100.1:p.Ile10Lys
NM_207118.2:c.29T>A , LRG_469t1:c.29T>A NP_997001.1:p.Ile10Lys
ENST00000607778.1:c.29T>A ENSP00000476100.1:p.Ile10Lys
ENST00000648328.1:c.29T>A ENSP00000497338.1:p.Ile10Lys
ENST00000689383.1:c.29T>A ENSP00000509596.1:p.Ile10Lys
ENST00000689809.1:c.29T>A ENSP00000510752.1:p.Ile10Lys
ENST00000691867.1:c.29T>A ENSP00000510706.1:p.Ile10Lys
XM_017010862.1:c.65+2137T>A XP_016866351.1:n.65+2137T>A