Canonical Allele Identifier: CA406180107

Gene: ETHE1 ZNF575

Linked Data

• MyVariant Identifiers: chr19:g.44030495G>T (hg19) ; chr19:g.43526343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526343G>T , CM000681.2:g.43526343G>T	GRCh38
NC_000019.9:g.44030495G>T , CM000681.1:g.44030495G>T	GRCh37
NC_000019.8:g.48722335G>T	NCBI36
NG_008141.1:g.5902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.233C>A (ETHE1) MANE Select	ENSP00000292147.1:p.Thr78Asn
ENST00000292147.6:c.233C>A (ETHE1)	ENSP00000292147.1:p.Thr78Asn
ENST00000458714.2:c.-65-84G>T (ZNF575)	ENSP00000413956.2:n.-65-84G>T
ENST00000594342.5:c.226+172C>A (ETHE1)	ENSP00000469652.1:n.226+172C>A
ENST00000595115.1:n.451C>A (ETHE1)
ENST00000598330.1:c.226+172C>A (ETHE1)	ENSP00000469219.1:n.226+172C>A
ENST00000600651.5:c.233C>A (ETHE1)	ENSP00000469037.1:p.Thr78Asn
ENST00000602138.1:c.*237C>A (ETHE1)	ENSP00000468964.1:n.*237C>A
NM_014297.3:c.233C>A (ETHE1)	NP_055112.2:p.Thr78Asn
XM_005258687.2:c.152C>A (ETHE1)	XP_005258744.1:p.Thr51Asn
XM_005258688.2:c.6+172C>A (ETHE1)	XP_005258745.1:n.6+172C>A
XM_011526685.1:c.226+172C>A (ETHE1)	XP_011524987.1:n.226+172C>A
NM_001320867.1:c.227-27C>A (ETHE1)	NP_001307796.1:n.227-27C>A
NM_001320868.1:c.6+172C>A (ETHE1)	NP_001307797.1:n.6+172C>A
NM_001320869.1:c.81+754C>A (ETHE1)	NP_001307798.1:n.81+754C>A
NM_014297.4:c.233C>A (ETHE1)	NP_055112.2:p.Thr78Asn
XM_005258687.4:c.152C>A (ETHE1)	XP_005258744.1:p.Thr51Asn
NM_014297.5:c.233C>A (ETHE1) MANE Select	NP_055112.2:p.Thr78Asn
NM_001320867.2:c.227-27C>A (ETHE1)	NP_001307796.1:n.227-27C>A
NM_001320868.2:c.6+172C>A (ETHE1)	NP_001307797.1:n.6+172C>A
NM_001320869.2:c.81+754C>A (ETHE1)	NP_001307798.1:n.81+754C>A