Canonical Allele Identifier: CA384044899

Gene: ETV6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885969G>A , CM000674.2:g.11885969G>A	GRCh38
NC_000012.11:g.12038903G>A , CM000674.1:g.12038903G>A	GRCh37
NC_000012.10:g.11930170G>A	NCBI36
NG_011443.1:g.241116G>A , LRG_609:g.241116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1196G>A MANE Select	ENSP00000379658.3:p.Arg399His
ENST00000266427.3:c.33G>A
ENST00000396373.8:c.1196G>A	ENSP00000379658.3:p.Arg399His
NM_001987.4:c.1196G>A , LRG_609t1:c.1196G>A	NP_001978.1:p.Arg399His
XM_011520607.1:c.1193G>A	XP_011518909.1:p.Arg398His
XM_011520608.1:c.1169G>A	XP_011518910.1:p.Arg390His
XM_011520609.1:c.932G>A	XP_011518911.1:p.Arg311His
XM_011520610.1:c.932G>A	XP_011518912.1:p.Arg311His
XM_011520611.1:c.932G>A	XP_011518913.1:p.Arg311His
XM_011520612.1:c.575G>A	XP_011518914.1:p.Arg192His
XM_011520607.2:c.1193G>A	XP_011518909.1:p.Arg398His
XM_011520608.2:c.1169G>A	XP_011518910.1:p.Arg390His
XM_011520609.2:c.932G>A	XP_011518911.1:p.Arg311His
XM_011520611.2:c.932G>A	XP_011518913.1:p.Arg311His
XM_011520612.2:c.575G>A	XP_011518914.1:p.Arg192His
XM_017018990.1:c.1061G>A	XP_016874479.1:p.Arg354His
XM_017018991.1:c.932G>A	XP_016874480.1:p.Arg311His
NM_001987.5:c.1196G>A MANE Select	NP_001978.1:p.Arg399His