Canonical Allele Identifier: CA232479314
Community Standard Title: NM_001987.5(ETV6):c.33+134A>G
Gene: ETV6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11650294A>G , CM000674.2:g.11650294A>G GRCh38
NC_000012.11:g.11803228A>G , CM000674.1:g.11803228A>G GRCh37
NC_000012.10:g.11694495A>G NCBI36
NG_011443.1:g.5441A>G , LRG_609:g.5441A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001987.5:c.33+134A>G MANE Select NP_001978.1:n.33+134A>G
ENST00000396373.9:c.33+134A>G MANE Select ENSP00000379658.3:n.33+134A>G
NM_001987.4:c.33+134A>G , LRG_609t1:c.33+134A>G NP_001978.1:n.33+134A>G
ENST00000396373.8:c.33+134A>G ENSP00000379658.3:n.33+134A>G
ENST00000541426.1:n.217+134A>G
ENST00000544715.1:n.150+134A>G
XM_011520607.1:c.33+134A>G XP_011518909.1:n.33+134A>G
XM_011520607.2:c.33+134A>G XP_011518909.1:n.33+134A>G
XM_011520611.1:c.-102+134A>G XP_011518913.1:n.-102+134A>G
XM_011520611.2:c.-102+134A>G XP_011518913.1:n.-102+134A>G
XM_017018990.1:c.33+134A>G XP_016874479.1:n.33+134A>G
XM_017018991.1:c.-1628+134A>G XP_016874480.1:n.-1628+134A>G