Canonical Allele Identifier: CA378824508
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373297-C-T
MyVariant Identifiers: chr10:g.135186801C>T (hg19) chr10:g.133373297C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373297C>T , CM000672.2:g.133373297C>T GRCh38
NC_000010.10:g.135186801C>T , CM000672.1:g.135186801C>T GRCh37
NC_000010.9:g.135036791C>T NCBI36
NG_042077.1:g.5108G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.37G>A MANE Select ENSP00000357535.3:p.Gly13Ser
ENST00000368547.3:c.37G>A ENSP00000357535.3:p.Gly13Ser
NM_004092.3:c.37G>A NP_004083.3:p.Gly13Ser
XR_002956965.1:n.100G>A
NM_004092.4:c.37G>A MANE Select NP_004083.3:p.Gly13Ser
Search 100 bp 5'
Search 100 bp 3'