Canonical Allele Identifier: CA452821394
Gene: GTF2H5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.158613042G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158192010G>A , CM000668.2:g.158192010G>A GRCh38
NC_000006.11:g.158613042G>A , CM000668.1:g.158613042G>A GRCh37
NC_000006.10:g.158533030G>A NCBI36
NG_011758.1:g.28664G>A , LRG_469:g.28664G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684993.1:n.128G>A
ENST00000689018.1:n.41-1200G>A
ENST00000689809.1:c.69G>A ENSP00000510752.1:p.Leu23=
ENST00000691867.1:c.69G>A ENSP00000510706.1:p.Leu23=
ENST00000607778.2:c.69G>A MANE Select ENSP00000476100.1:p.Leu23=
ENST00000648328.1:c.*34G>A ENSP00000497338.1:n.*34G>A
ENST00000607778.1:c.69G>A ENSP00000476100.1:p.Leu23=
NM_207118.2:c.69G>A , LRG_469t1:c.69G>A NP_997001.1:p.Leu23=
XM_017010862.1:c.99G>A XP_016866351.1:p.Leu33=
NM_207118.3:c.69G>A MANE Select NP_997001.1:p.Leu23=