Canonical Allele Identifier: CA345327675

Gene: EPHX1

Linked Data

• MyVariant Identifiers: chr1:g.226019653G>T (hg19) ; chr1:g.225831952G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225831952G>T , CM000663.2:g.225831952G>T	GRCh38
NC_000001.10:g.226019653G>T , CM000663.1:g.226019653G>T	GRCh37
NC_000001.9:g.224086276G>T	NCBI36
NG_009776.1:g.26857G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272167.10:c.357G>T MANE Select	ENSP00000272167.5:p.Lys119Asn
ENST00000272167.9:c.357G>T	ENSP00000272167.5:p.Lys119Asn
ENST00000366837.5:c.357G>T	ENSP00000355802.4:p.Lys119Asn
ENST00000445856.5:c.357G>T	ENSP00000398491.1:p.Lys119Asn
ENST00000448202.5:c.357G>T	ENSP00000408469.1:p.Lys119Asn
ENST00000467015.1:n.244G>T
ENST00000614058.4:c.357G>T	ENSP00000480004.1:p.Lys119Asn
NM_000120.3:c.357G>T	NP_000111.1:p.Lys119Asn
NM_001136018.3:c.357G>T	NP_001129490.1:p.Lys119Asn
NM_001291163.1:c.357G>T	NP_001278092.1:p.Lys119Asn
NM_000120.4:c.357G>T	NP_000111.1:p.Lys119Asn
NM_001136018.4:c.357G>T MANE Select	NP_001129490.1:p.Lys119Asn
NM_001291163.2:c.357G>T	NP_001278092.1:p.Lys119Asn
NM_001378426.1:c.357G>T	NP_001365355.1:p.Lys119Asn
NM_001378427.1:c.357G>T	NP_001365356.1:p.Lys119Asn
NM_001378428.1:c.330G>T	NP_001365357.1:p.Lys110Asn
NM_001378429.1:c.357G>T	NP_001365358.1:p.Lys119Asn
NM_001378430.1:c.357G>T	NP_001365359.1:p.Lys119Asn
NM_001378431.1:c.357G>T	NP_001365360.1:p.Lys119Asn
NM_001378432.1:c.357G>T	NP_001365361.1:p.Lys119Asn
NR_165624.1:n.369+39G>T
NR_165625.1:n.408G>T
NR_165626.1:n.854G>T
NR_165627.1:n.553G>T