Canonical Allele Identifier: CA452821360

Gene: GTF2H5

Linked Data

• gnomAD v4: 6-158191913-G-T
• MyVariant Identifiers: chr6:g.158612945G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158191913G>T , CM000668.2:g.158191913G>T	GRCh38
NC_000006.11:g.158612945G>T , CM000668.1:g.158612945G>T	GRCh37
NC_000006.10:g.158532933G>T	NCBI36
NG_011758.1:g.28567G>T , LRG_469:g.28567G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684993.1:n.95-64G>T
ENST00000689018.1:n.41-1297G>T
ENST00000689809.1:c.36-64G>T	ENSP00000510752.1:n.36-64G>T
ENST00000691867.1:c.36-64G>T	ENSP00000510706.1:n.36-64G>T
ENST00000607778.2:c.36-64G>T MANE Select	ENSP00000476100.1:n.36-64G>T
ENST00000648328.1:c.*1-64G>T	ENSP00000497338.1:n.*1-64G>T
ENST00000607778.1:c.36-64G>T	ENSP00000476100.1:n.36-64G>T
NM_207118.2:c.36-64G>T , LRG_469t1:c.36-64G>T	NP_997001.1:n.36-64G>T
XM_017010862.1:c.66-64G>T	XP_016866351.1:n.66-64G>T
NM_207118.3:c.36-64G>T MANE Select	NP_997001.1:n.36-64G>T