Canonical Allele Identifier: CA384043105

Gene: ETV6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11853492C>A , CM000674.2:g.11853492C>A	GRCh38
NC_000012.11:g.12006426C>A , CM000674.1:g.12006426C>A	GRCh37
NC_000012.10:g.11897693C>A	NCBI36
NG_011443.1:g.208639C>A , LRG_609:g.208639C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.394C>A MANE Select	ENSP00000379658.3:p.Pro132Thr
ENST00000396373.8:c.394C>A	ENSP00000379658.3:p.Pro132Thr
NM_001987.4:c.394C>A , LRG_609t1:c.394C>A	NP_001978.1:p.Pro132Thr
XM_011520607.1:c.391C>A	XP_011518909.1:p.Pro131Thr
XM_011520608.1:c.367C>A	XP_011518910.1:p.Pro123Thr
XM_011520609.1:c.130C>A	XP_011518911.1:p.Pro44Thr
XM_011520610.1:c.130C>A	XP_011518912.1:p.Pro44Thr
XM_011520611.1:c.130C>A	XP_011518913.1:p.Pro44Thr
XM_011520612.1:c.-228C>A	XP_011518914.1:n.-228C>A
XM_011520607.2:c.391C>A	XP_011518909.1:p.Pro131Thr
XM_011520608.2:c.367C>A	XP_011518910.1:p.Pro123Thr
XM_011520609.2:c.130C>A	XP_011518911.1:p.Pro44Thr
XM_011520611.2:c.130C>A	XP_011518913.1:p.Pro44Thr
XM_011520612.2:c.-228C>A	XP_011518914.1:n.-228C>A
XM_017018990.1:c.328+14188C>A	XP_016874479.1:n.328+14188C>A
XM_017018991.1:c.130C>A	XP_016874480.1:p.Pro44Thr
NM_001987.5:c.394C>A MANE Select	NP_001978.1:p.Pro132Thr