Canonical Allele Identifier: CA406175646

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511535G>C , CM000681.2:g.43511535G>C	GRCh38
NC_000019.9:g.44015687G>C , CM000681.1:g.44015687G>C	GRCh37
NC_000019.8:g.48707527G>C	NCBI36
NG_008141.1:g.20710C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.407C>G MANE Select	NP_055112.2:p.Thr136Ser
ENST00000292147.7:c.407C>G MANE Select	ENSP00000292147.1:p.Thr136Ser
NM_001320867.1:c.374C>G	NP_001307796.1:p.Thr125Ser
NM_001320867.2:c.374C>G	NP_001307796.1:p.Thr125Ser
NM_001320868.1:c.38C>G	NP_001307797.1:p.Thr13Ser
NM_001320868.2:c.38C>G	NP_001307797.1:p.Thr13Ser
NM_001320869.1:c.113C>G	NP_001307798.1:p.Thr38Ser
NM_001320869.2:c.113C>G	NP_001307798.1:p.Thr38Ser
NM_014297.3:c.407C>G	NP_055112.2:p.Thr136Ser
NM_014297.4:c.407C>G	NP_055112.2:p.Thr136Ser
ENST00000292147.6:c.407C>G	ENSP00000292147.1:p.Thr136Ser
ENST00000594342.5:c.258C>G	ENSP00000469652.1:p.His86Gln
ENST00000598330.1:c.258C>G	ENSP00000469219.1:p.His86Gln
ENST00000600651.5:c.407C>G	ENSP00000469037.1:p.Thr136Ser
ENST00000602138.1:c.*411C>G	ENSP00000468964.1:n.*411C>G
XM_005258687.2:c.326C>G	XP_005258744.1:p.Thr109Ser
XM_005258687.4:c.326C>G	XP_005258744.1:p.Thr109Ser
XM_005258688.2:c.38C>G	XP_005258745.1:p.Thr13Ser
XM_011526685.1:c.227-2671C>G	XP_011524987.1:n.227-2671C>G