Canonical Allele Identifier: CA934177085
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1849145163
gnomAD v3: 10-133373353-C-A
gnomAD v4: 10-133373353-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373353C>A , CM000672.2:g.133373353C>A GRCh38
NC_000010.10:g.135186857C>A , CM000672.1:g.135186857C>A GRCh37
NC_000010.9:g.135036847C>A NCBI36
NG_042077.1:g.5052G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.-20G>T MANE Select ENSP00000357535.3:n.-20G>T
ENST00000368547.3:c.-20G>T ENSP00000357535.3:n.-20G>T
NM_004092.3:c.-20G>T NP_004083.3:n.-20G>T
XR_002956965.1:n.44G>T
NM_004092.4:c.-20G>T MANE Select NP_004083.3:n.-20G>T
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