Canonical Allele Identifier: CA2611597147
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133365966-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365966G>T , CM000672.2:g.133365966G>T GRCh38
NC_000010.10:g.135179470G>T , CM000672.1:g.135179470G>T GRCh37
NC_000010.9:g.135029460G>T NCBI36
NG_042077.1:g.12439C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368547.4:c.739+10C>A MANE Select ENSP00000357535.3:n.739+10C>A
ENST00000368547.3:c.739+10C>A ENSP00000357535.3:n.739+10C>A
NM_004092.3:c.739+10C>A NP_004083.3:n.739+10C>A
XR_002956965.1:n.1595+10C>A
NM_004092.4:c.739+10C>A MANE Select NP_004083.3:n.739+10C>A
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