Canonical Allele Identifier: CA290779
Gene: ETHE1 HGNC NCBI
ZNF575 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.43527222C>T
GRCh37 chr19:g.44031374C>T
gnomAD v2:
19:44031374 C / T
gnomAD v3:
19:43527222 C / T
gnomAD v4:
chr19-43527222-C-T
Joint Max Group AF 0.01192361 (SAS)
Genomes Max Group AF 0.0108385 (SAS)
Exomes Max Group AF 0.01185013 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43527222C>T , CM000681.2:g.43527222C>T GRCh38
NC_000019.9:g.44031374C>T , CM000681.1:g.44031374C>T GRCh37
NC_000019.8:g.48723214C>T NCBI36
NG_008141.1:g.5023G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000292147.6:c.-45G>A (ETHE1) ENSP00000292147.1:n.-45G>A
ENST00000458714.2:c.135+596C>T (ZNF575) ENSP00000413956.2:n.135+596C>T
ENST00000595115.1:n.9G>A (ETHE1)
ENST00000598330.1:c.-45G>A (ETHE1) ENSP00000469219.1:n.-45G>A
NM_014297.3:c.-45G>A (ETHE1) NP_055112.2:n.-45G>A
XM_011526685.1:c.-45G>A (ETHE1) XP_011524987.1:n.-45G>A
NM_001320867.1:c.-45G>A (ETHE1) NP_001307796.1:n.-45G>A
NM_001320868.1:c.-265G>A (ETHE1) NP_001307797.1:n.-265G>A
NM_001320869.1:c.-45G>A (ETHE1) NP_001307798.1:n.-45G>A
NM_014297.4:c.-45G>A (ETHE1) NP_055112.2:n.-45G>A
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