Canonical Allele Identifier: CA389733170

Gene: ERO1A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52663830C>G , CM000676.2:g.52663830C>G	GRCh38
NC_000014.8:g.53130548C>G , CM000676.1:g.53130548C>G	GRCh37
NC_000014.7:g.52200298C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014584.3:c.647G>C MANE Select	NP_055399.1:p.Arg216Thr
ENST00000395686.8:c.647G>C MANE Select	ENSP00000379042.3:p.Arg216Thr
NM_001382464.1:c.686G>C	NP_001369393.1:p.Arg229Thr
NM_001382465.1:c.647G>C	NP_001369394.1:p.Arg216Thr
NM_001382466.1:c.647G>C	NP_001369395.1:p.Arg216Thr
NM_001382467.1:c.647G>C	NP_001369396.1:p.Arg216Thr
NM_001382468.1:c.647G>C	NP_001369397.1:p.Arg216Thr
NM_001382469.1:c.608G>C	NP_001369398.1:p.Arg203Thr
NM_001382470.1:c.647G>C	NP_001369399.1:p.Arg216Thr
NM_001382471.1:c.560G>C	NP_001369400.1:p.Arg187Thr
NM_001382472.1:c.536G>C	NP_001369401.1:p.Arg179Thr
NM_001382473.1:c.647G>C	NP_001369402.1:p.Arg216Thr
NM_001382474.1:c.443G>C	NP_001369403.1:p.Arg148Thr
NM_001382475.1:c.407G>C	NP_001369404.1:p.Arg136Thr
NM_001382476.1:c.647G>C	NP_001369405.1:p.Arg216Thr
NM_014584.2:c.647G>C	NP_055399.1:p.Arg216Thr
ENST00000395686.7:c.647G>C	ENSP00000379042.3:p.Arg216Thr
ENST00000554019.5:c.647G>C	ENSP00000451204.1:p.Arg216Thr
ENST00000556039.5:c.647G>C	ENSP00000452020.1:p.Arg216Thr
ENST00000556769.1:n.373G>C
ENST00000629528.2:c.647G>C	ENSP00000487101.1:p.Arg216Thr
XM_011536684.1:c.647G>C	XP_011534986.1:p.Arg216Thr
XM_011536684.2:c.647G>C	XP_011534986.1:p.Arg216Thr
XM_024449554.1:c.647G>C	XP_024305322.1:p.Arg216Thr