Canonical Allele Identifier: CA6454118

Gene: ETV6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11752532G>A , CM000674.2:g.11752532G>A	GRCh38
NC_000012.11:g.11905466G>A , CM000674.1:g.11905466G>A	GRCh37
NC_000012.10:g.11796733G>A	NCBI36
NG_011443.1:g.107679G>A , LRG_609:g.107679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.116G>A MANE Select	ENSP00000379658.3:p.Arg39Gln
ENST00000396373.8:c.116G>A	ENSP00000379658.3:p.Arg39Gln
ENST00000541426.1:n.300G>A
ENST00000544715.1:n.390G>A
ENST00000545027.1:c.32G>A	ENSP00000441463.1:p.Arg11Gln
NM_001987.4:c.116G>A , LRG_609t1:c.116G>A	NP_001978.1:p.Arg39Gln
XM_011520607.1:c.113G>A	XP_011518909.1:p.Arg38Gln
XM_011520608.1:c.89G>A	XP_011518910.1:p.Arg30Gln
XM_011520611.1:c.-101-86608G>A	XP_011518913.1:n.-101-86608G>A
XM_011520607.2:c.113G>A	XP_011518909.1:p.Arg38Gln
XM_011520608.2:c.89G>A	XP_011518910.1:p.Arg30Gln
XM_011520611.2:c.-101-86608G>A	XP_011518913.1:n.-101-86608G>A
XM_017018990.1:c.116G>A	XP_016874479.1:p.Arg39Gln
XM_017018991.1:c.-1545G>A	XP_016874480.1:n.-1545G>A
NM_001987.5:c.116G>A MANE Select	NP_001978.1:p.Arg39Gln