Canonical Allele Identifier: CA10791856
Community Standard Title: NM_001136018.4(EPHX1):c.722+149C>T
Gene: EPHX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225839495C>T , CM000663.2:g.225839495C>T GRCh38
NC_000001.10:g.226027196C>T , CM000663.1:g.226027196C>T GRCh37
NC_000001.9:g.224093819C>T NCBI36
NG_009776.1:g.34400C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001136018.4:c.722+149C>T MANE Select NP_001129490.1:n.722+149C>T
ENST00000272167.10:c.722+149C>T MANE Select ENSP00000272167.5:n.722+149C>T
NM_000120.3:c.722+149C>T NP_000111.1:n.722+149C>T
NM_000120.4:c.722+149C>T NP_000111.1:n.722+149C>T
NM_001136018.3:c.722+149C>T NP_001129490.1:n.722+149C>T
NM_001291163.1:c.722+149C>T NP_001278092.1:n.722+149C>T
NM_001291163.2:c.722+149C>T NP_001278092.1:n.722+149C>T
NM_001378426.1:c.722+149C>T NP_001365355.1:n.722+149C>T
NM_001378427.1:c.722+149C>T NP_001365356.1:n.722+149C>T
NM_001378428.1:c.695+149C>T NP_001365357.1:n.695+149C>T
NM_001378429.1:c.722+149C>T NP_001365358.1:n.722+149C>T
NM_001378430.1:c.722+149C>T NP_001365359.1:n.722+149C>T
NM_001378431.1:c.494+149C>T NP_001365360.1:n.494+149C>T
NM_001378432.1:c.365-2871C>T NP_001365361.1:n.365-2871C>T
NR_165624.1:n.370-2919C>T
NR_165625.1:n.773+149C>T
NR_165626.1:n.1219+149C>T
NR_165627.1:n.918+149C>T
ENST00000272167.9:c.722+149C>T ENSP00000272167.5:n.722+149C>T
ENST00000366837.5:c.722+149C>T ENSP00000355802.4:n.722+149C>T
ENST00000614058.4:c.722+149C>T ENSP00000480004.1:n.722+149C>T