Canonical Allele Identifier: CA507737782

Gene: ETHE1 ZNF575

Linked Data

• ClinVar Variation Id: 1652319
• ClinVar RCV Id: RCV002156084
• dbSNP Id: rs2146019094
• MyVariant Identifiers: chr19:g.44030482C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526330C>A , CM000681.2:g.43526330C>A	GRCh38
NC_000019.9:g.44030482C>A , CM000681.1:g.44030482C>A	GRCh37
NC_000019.8:g.48722322C>A	NCBI36
NG_008141.1:g.5915G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.246G>T (ETHE1) MANE Select	ENSP00000292147.1:p.Ala82=
ENST00000292147.6:c.246G>T (ETHE1)	ENSP00000292147.1:p.Ala82=
ENST00000458714.2:c.-66+92C>A (ZNF575)	ENSP00000413956.2:n.-66+92C>A
ENST00000594342.5:c.226+185G>T (ETHE1)	ENSP00000469652.1:n.226+185G>T
ENST00000595115.1:n.464G>T (ETHE1)
ENST00000598330.1:c.226+185G>T (ETHE1)	ENSP00000469219.1:n.226+185G>T
ENST00000600651.5:c.246G>T (ETHE1)	ENSP00000469037.1:p.Ala82=
ENST00000602138.1:c.*250G>T (ETHE1)	ENSP00000468964.1:n.*250G>T
NM_014297.3:c.246G>T (ETHE1)	NP_055112.2:p.Ala82=
XM_005258687.2:c.165G>T (ETHE1)	XP_005258744.1:p.Ala55=
XM_005258688.2:c.6+185G>T (ETHE1)	XP_005258745.1:n.6+185G>T
XM_011526685.1:c.226+185G>T (ETHE1)	XP_011524987.1:n.226+185G>T
NM_001320867.1:c.227-14G>T (ETHE1)	NP_001307796.1:n.227-14G>T
NM_001320868.1:c.6+185G>T (ETHE1)	NP_001307797.1:n.6+185G>T
NM_001320869.1:c.81+767G>T (ETHE1)	NP_001307798.1:n.81+767G>T
NM_014297.4:c.246G>T (ETHE1)	NP_055112.2:p.Ala82=
XM_005258687.4:c.165G>T (ETHE1)	XP_005258744.1:p.Ala55=
NM_014297.5:c.246G>T (ETHE1) MANE Select	NP_055112.2:p.Ala82=
NM_001320867.2:c.227-14G>T (ETHE1)	NP_001307796.1:n.227-14G>T
NM_001320868.2:c.6+185G>T (ETHE1)	NP_001307797.1:n.6+185G>T
NM_001320869.2:c.81+767G>T (ETHE1)	NP_001307798.1:n.81+767G>T