Canonical Allele Identifier: CA6454266

Gene: ETV6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11869464T>C , CM000674.2:g.11869464T>C	GRCh38
NC_000012.11:g.12022398T>C , CM000674.1:g.12022398T>C	GRCh37
NC_000012.10:g.11913665T>C	NCBI36
NG_011443.1:g.224611T>C , LRG_609:g.224611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.504T>C MANE Select	ENSP00000379658.3:p.Asn168=
ENST00000396373.8:c.504T>C	ENSP00000379658.3:p.Asn168=
NM_001987.4:c.504T>C , LRG_609t1:c.504T>C	NP_001978.1:p.Asn168=
XM_011520607.1:c.501T>C	XP_011518909.1:p.Asn167=
XM_011520608.1:c.477T>C	XP_011518910.1:p.Asn159=
XM_011520609.1:c.240T>C	XP_011518911.1:p.Asn80=
XM_011520610.1:c.240T>C	XP_011518912.1:p.Asn80=
XM_011520611.1:c.240T>C	XP_011518913.1:p.Asn80=
XM_011520612.1:c.-118T>C	XP_011518914.1:n.-118T>C
XM_011520607.2:c.501T>C	XP_011518909.1:p.Asn167=
XM_011520608.2:c.477T>C	XP_011518910.1:p.Asn159=
XM_011520609.2:c.240T>C	XP_011518911.1:p.Asn80=
XM_011520611.2:c.240T>C	XP_011518913.1:p.Asn80=
XM_011520612.2:c.-118T>C	XP_011518914.1:n.-118T>C
XM_017018990.1:c.369T>C	XP_016874479.1:p.Asn123=
XM_017018991.1:c.240T>C	XP_016874480.1:p.Asn80=
NM_001987.5:c.504T>C MANE Select	NP_001978.1:p.Asn168=