Canonical Allele Identifier: CA571465151

Gene: GTF2H5

Linked Data

• dbSNP Id: rs1306126492
• gnomAD v2: 6-158612961-T-C
• gnomAD v4: 6-158191929-T-C
• MyVariant Identifiers: chr6:g.158612961T>C (hg19) ; chr6:g.158191929T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158191929T>C , CM000668.2:g.158191929T>C	GRCh38
NC_000006.11:g.158612961T>C , CM000668.1:g.158612961T>C	GRCh37
NC_000006.10:g.158532949T>C	NCBI36
NG_011758.1:g.28583T>C , LRG_469:g.28583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684993.1:n.95-48T>C
ENST00000689018.1:n.41-1281T>C
ENST00000689809.1:c.36-48T>C	ENSP00000510752.1:n.36-48T>C
ENST00000691867.1:c.36-48T>C	ENSP00000510706.1:n.36-48T>C
ENST00000607778.2:c.36-48T>C MANE Select	ENSP00000476100.1:n.36-48T>C
ENST00000648328.1:c.*1-48T>C	ENSP00000497338.1:n.*1-48T>C
ENST00000607778.1:c.36-48T>C	ENSP00000476100.1:n.36-48T>C
NM_207118.2:c.36-48T>C , LRG_469t1:c.36-48T>C	NP_997001.1:n.36-48T>C
XM_017010862.1:c.66-48T>C	XP_016866351.1:n.66-48T>C
NM_207118.3:c.36-48T>C MANE Select	NP_997001.1:n.36-48T>C