Canonical Allele Identifier: CA1418588

Gene: EPHX1 TMEM63A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225842438C>T , CM000663.2:g.225842438C>T	GRCh38
NC_000001.10:g.226030139C>T , CM000663.1:g.226030139C>T	GRCh37
NC_000001.9:g.224096762C>T	NCBI36
NG_009776.1:g.37343C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001136018.4:c.1004C>T (EPHX1) MANE Select	NP_001129490.1:p.Thr335Met
ENST00000272167.10:c.1004C>T (EPHX1) MANE Select	ENSP00000272167.5:p.Thr335Met
NM_000120.3:c.1004C>T (EPHX1)	NP_000111.1:p.Thr335Met
NM_000120.4:c.1004C>T (EPHX1)	NP_000111.1:p.Thr335Met
NM_001136018.3:c.1004C>T (EPHX1)	NP_001129490.1:p.Thr335Met
NM_001291163.1:c.1004C>T (EPHX1)	NP_001278092.1:p.Thr335Met
NM_001291163.2:c.1004C>T (EPHX1)	NP_001278092.1:p.Thr335Met
NM_001378426.1:c.1004C>T (EPHX1)	NP_001365355.1:p.Thr335Met
NM_001378427.1:c.1004C>T (EPHX1)	NP_001365356.1:p.Thr335Met
NM_001378428.1:c.977C>T (EPHX1)	NP_001365357.1:p.Thr326Met
NM_001378429.1:c.956C>T (EPHX1)	NP_001365358.1:p.Thr319Met
NM_001378430.1:c.956C>T (EPHX1)	NP_001365359.1:p.Thr319Met
NM_001378431.1:c.776C>T (EPHX1)	NP_001365360.1:p.Thr259Met
NM_001378432.1:c.437C>T (EPHX1)	NP_001365361.1:p.Thr146Met
NR_165624.1:n.394C>T (EPHX1)
NR_165625.1:n.979C>T (EPHX1)
NR_165626.1:n.1429-2060C>T (EPHX1)
NR_165627.1:n.1124C>T (EPHX1)
ENST00000272167.9:c.1004C>T (EPHX1)	ENSP00000272167.5:p.Thr335Met
ENST00000366837.5:c.1004C>T (EPHX1)	ENSP00000355802.4:p.Thr335Met
ENST00000614058.4:c.1004C>T (EPHX1)	ENSP00000480004.1:p.Thr335Met
XR_949163.1:n.2831-1251G>A (TMEM63A)
XR_949163.3:n.2810-1251G>A (TMEM63A)