Canonical Allele Identifier: CA406175648

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511536T>A , CM000681.2:g.43511536T>A	GRCh38
NC_000019.9:g.44015688T>A , CM000681.1:g.44015688T>A	GRCh37
NC_000019.8:g.48707528T>A	NCBI36
NG_008141.1:g.20709A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.406A>T MANE Select	NP_055112.2:p.Thr136Ser
ENST00000292147.7:c.406A>T MANE Select	ENSP00000292147.1:p.Thr136Ser
NM_001320867.1:c.373A>T	NP_001307796.1:p.Thr125Ser
NM_001320867.2:c.373A>T	NP_001307796.1:p.Thr125Ser
NM_001320868.1:c.37A>T	NP_001307797.1:p.Thr13Ser
NM_001320868.2:c.37A>T	NP_001307797.1:p.Thr13Ser
NM_001320869.1:c.112A>T	NP_001307798.1:p.Thr38Ser
NM_001320869.2:c.112A>T	NP_001307798.1:p.Thr38Ser
NM_014297.3:c.406A>T	NP_055112.2:p.Thr136Ser
NM_014297.4:c.406A>T	NP_055112.2:p.Thr136Ser
ENST00000292147.6:c.406A>T	ENSP00000292147.1:p.Thr136Ser
ENST00000594342.5:c.257A>T	ENSP00000469652.1:p.His86Leu
ENST00000598330.1:c.257A>T	ENSP00000469219.1:p.His86Leu
ENST00000600651.5:c.406A>T	ENSP00000469037.1:p.Thr136Ser
ENST00000602138.1:c.*410A>T	ENSP00000468964.1:n.*410A>T
XM_005258687.2:c.325A>T	XP_005258744.1:p.Thr109Ser
XM_005258687.4:c.325A>T	XP_005258744.1:p.Thr109Ser
XM_005258688.2:c.37A>T	XP_005258745.1:p.Thr13Ser
XM_011526685.1:c.227-2672A>T	XP_011524987.1:n.227-2672A>T