Canonical Allele Identifier: CA378819430
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs11542966
gnomAD v2: 10-135179580-A-T
gnomAD v4: 10-133366076-A-T
MyVariant Identifiers: chr10:g.135179580A>T (hg19) chr10:g.133366076A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366076A>T , CM000672.2:g.133366076A>T GRCh38
NC_000010.10:g.135179580A>T , CM000672.1:g.135179580A>T GRCh37
NC_000010.9:g.135029570A>T NCBI36
NG_042077.1:g.12329T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.639T>A MANE Select ENSP00000357535.3:p.Cys213Ter
ENST00000368547.3:c.639T>A ENSP00000357535.3:p.Cys213Ter
NM_004092.3:c.639T>A NP_004083.3:p.Cys213Ter
XR_002956965.1:n.1495T>A
NM_004092.4:c.639T>A MANE Select NP_004083.3:p.Cys213Ter
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Search 100 bp 3'