Canonical Allele Identifier: CA378819426
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133366074-G-T
MyVariant Identifiers: chr10:g.135179578G>T (hg19) chr10:g.133366074G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366074G>T , CM000672.2:g.133366074G>T GRCh38
NC_000010.10:g.135179578G>T , CM000672.1:g.135179578G>T GRCh37
NC_000010.9:g.135029568G>T NCBI36
NG_042077.1:g.12331C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.641C>A MANE Select ENSP00000357535.3:p.Pro214His
ENST00000368547.3:c.641C>A ENSP00000357535.3:p.Pro214His
NM_004092.3:c.641C>A NP_004083.3:p.Pro214His
XR_002956965.1:n.1497C>A
NM_004092.4:c.641C>A MANE Select NP_004083.3:p.Pro214His
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