Canonical Allele Identifier: CA406175066
Gene: ETHE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43508055T>C , CM000681.2:g.43508055T>C GRCh38
NC_000019.9:g.44012207T>C , CM000681.1:g.44012207T>C GRCh37
NC_000019.8:g.48704047T>C NCBI36
NG_008141.1:g.24190A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000292147.7:c.601A>G MANE Select ENSP00000292147.1:p.Thr201Ala
ENST00000292147.6:c.601A>G ENSP00000292147.1:p.Thr201Ala
ENST00000594342.5:c.*164A>G ENSP00000469652.1:n.*164A>G
ENST00000598330.1:c.*164A>G ENSP00000469219.1:n.*164A>G
ENST00000600651.5:c.601A>G ENSP00000469037.1:p.Thr201Ala
NM_014297.3:c.601A>G NP_055112.2:p.Thr201Ala
XM_005258687.2:c.520A>G XP_005258744.1:p.Thr174Ala
XM_005258688.2:c.232A>G XP_005258745.1:p.Thr78Ala
XM_011526685.1:c.322A>G XP_011524987.1:p.Thr108Ala
NM_001320867.1:c.568A>G NP_001307796.1:p.Thr190Ala
NM_001320868.1:c.232A>G NP_001307797.1:p.Thr78Ala
NM_001320869.1:c.307A>G NP_001307798.1:p.Thr103Ala
NM_014297.4:c.601A>G NP_055112.2:p.Thr201Ala
XM_005258687.4:c.520A>G XP_005258744.1:p.Thr174Ala
NM_014297.5:c.601A>G MANE Select NP_055112.2:p.Thr201Ala
NM_001320867.2:c.568A>G NP_001307796.1:p.Thr190Ala
NM_001320868.2:c.232A>G NP_001307797.1:p.Thr78Ala
NM_001320869.2:c.307A>G NP_001307798.1:p.Thr103Ala