Canonical Allele Identifier: CA2574717368
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2133439630
gnomAD v4: 10-133365924-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365924G>A , CM000672.2:g.133365924G>A GRCh38
NC_000010.10:g.135179428G>A , CM000672.1:g.135179428G>A GRCh37
NC_000010.9:g.135029418G>A NCBI36
NG_042077.1:g.12481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.739+52C>T MANE Select ENSP00000357535.3:n.739+52C>T
ENST00000368547.3:c.739+52C>T ENSP00000357535.3:n.739+52C>T
NM_004092.3:c.739+52C>T NP_004083.3:n.739+52C>T
XR_002956965.1:n.1595+52C>T
NM_004092.4:c.739+52C>T MANE Select NP_004083.3:n.739+52C>T
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