Canonical Allele Identifier: CA406175067

Gene: ETHE1

Linked Data

• MyVariant Identifiers: chr19:g.44012207T>G (hg19) ; chr19:g.43508055T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000292147.7:c.601A>C MANE Select	ENSP00000292147.1:p.Thr201Pro
ENST00000292147.6:c.601A>C	ENSP00000292147.1:p.Thr201Pro
ENST00000594342.5:c.*164A>C	ENSP00000469652.1:n.*164A>C
ENST00000598330.1:c.*164A>C	ENSP00000469219.1:n.*164A>C
ENST00000600651.5:c.601A>C	ENSP00000469037.1:p.Thr201Pro
NM_014297.3:c.601A>C	NP_055112.2:p.Thr201Pro
XM_005258687.2:c.520A>C	XP_005258744.1:p.Thr174Pro
XM_005258688.2:c.232A>C	XP_005258745.1:p.Thr78Pro
XM_011526685.1:c.322A>C	XP_011524987.1:p.Thr108Pro
NM_001320867.1:c.568A>C	NP_001307796.1:p.Thr190Pro
NM_001320868.1:c.232A>C	NP_001307797.1:p.Thr78Pro
NM_001320869.1:c.307A>C	NP_001307798.1:p.Thr103Pro
NM_014297.4:c.601A>C	NP_055112.2:p.Thr201Pro
XM_005258687.4:c.520A>C	XP_005258744.1:p.Thr174Pro
NM_014297.5:c.601A>C MANE Select	NP_055112.2:p.Thr201Pro
NM_001320867.2:c.568A>C	NP_001307796.1:p.Thr190Pro
NM_001320868.2:c.232A>C	NP_001307797.1:p.Thr78Pro
NM_001320869.2:c.307A>C	NP_001307798.1:p.Thr103Pro