Canonical Allele Identifier: CA39671553
Community Standard Title: NM_019891.4(ERO1B):c.1357A>G (p.Ile453Val)
Gene: ERO1B HGNC NCBI
GPR137B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236218563T>C , CM000663.2:g.236218563T>C GRCh38
NC_000001.10:g.236381863T>C , CM000663.1:g.236381863T>C GRCh37
NC_000001.9:g.234448486T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_019891.4:c.1357A>G (ERO1B) MANE Select NP_063944.3:p.Ile453Val
ENST00000354619.10:c.1357A>G (ERO1B) MANE Select ENSP00000346635.5:p.Ile453Val
NM_019891.3:c.1357A>G (ERO1B) NP_063944.3:p.Ile453Val
ENST00000354619.9:c.1357A>G (ERO1B) ENSP00000346635.5:p.Ile453Val
ENST00000477559.2:n.255-3228T>C (GPR137B)
ENST00000685201.1:n.2085A>G (ERO1B)
ENST00000687487.1:c.1000A>G (ERO1B) ENSP00000510551.1:p.Ile334Val
ENST00000688164.1:n.1017A>G (ERO1B)
ENST00000691874.1:n.1187A>G (ERO1B)
ENST00000693072.1:n.3936A>G (ERO1B)
XM_024448449.1:c.760A>G (ERO1B) XP_024304217.1:p.Ile254Val