Canonical Allele Identifier: CA821440029

Gene: GTF2H5

Linked Data

• dbSNP Id: rs1171195970
• gnomAD v4: 6-158191905-A-G
• MyVariant Identifiers: chr6:g.158612937A>G (hg19) ; chr6:g.158191905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158191905A>G , CM000668.2:g.158191905A>G	GRCh38
NC_000006.11:g.158612937A>G , CM000668.1:g.158612937A>G	GRCh37
NC_000006.10:g.158532925A>G	NCBI36
NG_011758.1:g.28559A>G , LRG_469:g.28559A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684993.1:n.95-72A>G
ENST00000689018.1:n.41-1305A>G
ENST00000689809.1:c.36-72A>G	ENSP00000510752.1:n.36-72A>G
ENST00000691867.1:c.36-72A>G	ENSP00000510706.1:n.36-72A>G
ENST00000607778.2:c.36-72A>G MANE Select	ENSP00000476100.1:n.36-72A>G
ENST00000648328.1:c.*1-72A>G	ENSP00000497338.1:n.*1-72A>G
ENST00000607778.1:c.36-72A>G	ENSP00000476100.1:n.36-72A>G
NM_207118.2:c.36-72A>G , LRG_469t1:c.36-72A>G	NP_997001.1:n.36-72A>G
XM_017010862.1:c.66-72A>G	XP_016866351.1:n.66-72A>G
NM_207118.3:c.36-72A>G MANE Select	NP_997001.1:n.36-72A>G