Canonical Allele Identifier: CA378818339
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133365981-T-G
MyVariant Identifiers: chr10:g.135179485T>G (hg19) chr10:g.133365981T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365981T>G , CM000672.2:g.133365981T>G GRCh38
NC_000010.10:g.135179485T>G , CM000672.1:g.135179485T>G GRCh37
NC_000010.9:g.135029475T>G NCBI36
NG_042077.1:g.12424A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.734A>C MANE Select ENSP00000357535.3:p.Asn245Thr
ENST00000368547.3:c.734A>C ENSP00000357535.3:p.Asn245Thr
NM_004092.3:c.734A>C NP_004083.3:p.Asn245Thr
XR_002956965.1:n.1590A>C
NM_004092.4:c.734A>C MANE Select NP_004083.3:p.Asn245Thr
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