Canonical Allele Identifier: CA6454276

Gene: ETV6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11869502G>A , CM000674.2:g.11869502G>A	GRCh38
NC_000012.11:g.12022436G>A , CM000674.1:g.12022436G>A	GRCh37
NC_000012.10:g.11913703G>A	NCBI36
NG_011443.1:g.224649G>A , LRG_609:g.224649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.542G>A MANE Select	ENSP00000379658.3:p.Arg181His
ENST00000396373.8:c.542G>A	ENSP00000379658.3:p.Arg181His
NM_001987.4:c.542G>A , LRG_609t1:c.542G>A	NP_001978.1:p.Arg181His
XM_011520607.1:c.539G>A	XP_011518909.1:p.Arg180His
XM_011520608.1:c.515G>A	XP_011518910.1:p.Arg172His
XM_011520609.1:c.278G>A	XP_011518911.1:p.Arg93His
XM_011520610.1:c.278G>A	XP_011518912.1:p.Arg93His
XM_011520611.1:c.278G>A	XP_011518913.1:p.Arg93His
XM_011520612.1:c.-80G>A	XP_011518914.1:n.-80G>A
XM_011520607.2:c.539G>A	XP_011518909.1:p.Arg180His
XM_011520608.2:c.515G>A	XP_011518910.1:p.Arg172His
XM_011520609.2:c.278G>A	XP_011518911.1:p.Arg93His
XM_011520611.2:c.278G>A	XP_011518913.1:p.Arg93His
XM_011520612.2:c.-80G>A	XP_011518914.1:n.-80G>A
XM_017018990.1:c.407G>A	XP_016874479.1:p.Arg136His
XM_017018991.1:c.278G>A	XP_016874480.1:p.Arg93His
NM_001987.5:c.542G>A MANE Select	NP_001978.1:p.Arg181His