Canonical Allele Identifier: CA232607864

Gene: ETV6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11869532G>A , CM000674.2:g.11869532G>A	GRCh38
NC_000012.11:g.12022466G>A , CM000674.1:g.12022466G>A	GRCh37
NC_000012.10:g.11913733G>A	NCBI36
NG_011443.1:g.224679G>A , LRG_609:g.224679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.572G>A MANE Select	ENSP00000379658.3:p.Arg191Gln
ENST00000396373.8:c.572G>A	ENSP00000379658.3:p.Arg191Gln
NM_001987.4:c.572G>A , LRG_609t1:c.572G>A	NP_001978.1:p.Arg191Gln
XM_011520607.1:c.569G>A	XP_011518909.1:p.Arg190Gln
XM_011520608.1:c.545G>A	XP_011518910.1:p.Arg182Gln
XM_011520609.1:c.308G>A	XP_011518911.1:p.Arg103Gln
XM_011520610.1:c.308G>A	XP_011518912.1:p.Arg103Gln
XM_011520611.1:c.308G>A	XP_011518913.1:p.Arg103Gln
XM_011520612.1:c.-50G>A	XP_011518914.1:n.-50G>A
XM_011520607.2:c.569G>A	XP_011518909.1:p.Arg190Gln
XM_011520608.2:c.545G>A	XP_011518910.1:p.Arg182Gln
XM_011520609.2:c.308G>A	XP_011518911.1:p.Arg103Gln
XM_011520611.2:c.308G>A	XP_011518913.1:p.Arg103Gln
XM_011520612.2:c.-50G>A	XP_011518914.1:n.-50G>A
XM_017018990.1:c.437G>A	XP_016874479.1:p.Arg146Gln
XM_017018991.1:c.308G>A	XP_016874480.1:p.Arg103Gln
NM_001987.5:c.572G>A MANE Select	NP_001978.1:p.Arg191Gln