Canonical Allele Identifier: CA2611597154
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133366113-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366113C>G , CM000672.2:g.133366113C>G GRCh38
NC_000010.10:g.135179617C>G , CM000672.1:g.135179617C>G GRCh37
NC_000010.9:g.135029607C>G NCBI36
NG_042077.1:g.12292G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-18G>C MANE Select ENSP00000357535.3:n.620-18G>C
ENST00000368547.3:c.620-18G>C ENSP00000357535.3:n.620-18G>C
NM_004092.3:c.620-18G>C NP_004083.3:n.620-18G>C
XR_002956965.1:n.1458G>C
NM_004092.4:c.620-18G>C MANE Select NP_004083.3:n.620-18G>C
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