Canonical Allele Identifier: CA2611598708
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373393-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373393G>A , CM000672.2:g.133373393G>A GRCh38
NC_000010.10:g.135186897G>A , CM000672.1:g.135186897G>A GRCh37
NC_000010.9:g.135036887G>A NCBI36
NG_042077.1:g.5012C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-60C>T ENSP00000357535.3:n.-60C>T
NM_004092.3:c.-60C>T NP_004083.3:n.-60C>T
XR_002956965.1:n.4C>T
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