Canonical Allele Identifier: CA6454127
Community Standard Title: NM_001987.5(ETV6):c.145C>T (p.Arg49Cys)
Gene: ETV6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11752561C>T , CM000674.2:g.11752561C>T GRCh38
NC_000012.11:g.11905495C>T , CM000674.1:g.11905495C>T GRCh37
NC_000012.10:g.11796762C>T NCBI36
NG_011443.1:g.107708C>T , LRG_609:g.107708C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001987.5:c.145C>T MANE Select NP_001978.1:p.Arg49Cys
ENST00000396373.9:c.145C>T MANE Select ENSP00000379658.3:p.Arg49Cys
NM_001987.4:c.145C>T , LRG_609t1:c.145C>T NP_001978.1:p.Arg49Cys
ENST00000396373.8:c.145C>T ENSP00000379658.3:p.Arg49Cys
ENST00000541426.1:n.329C>T
ENST00000544715.1:n.419C>T
ENST00000545027.1:c.61C>T ENSP00000441463.1:p.Arg21Cys
XM_011520607.1:c.142C>T XP_011518909.1:p.Arg48Cys
XM_011520607.2:c.142C>T XP_011518909.1:p.Arg48Cys
XM_011520608.1:c.118C>T XP_011518910.1:p.Arg40Cys
XM_011520608.2:c.118C>T XP_011518910.1:p.Arg40Cys
XM_011520611.1:c.-101-86579C>T XP_011518913.1:n.-101-86579C>T
XM_011520611.2:c.-101-86579C>T XP_011518913.1:n.-101-86579C>T
XM_017018990.1:c.145C>T XP_016874479.1:p.Arg49Cys
XM_017018991.1:c.-1516C>T XP_016874480.1:n.-1516C>T