Canonical Allele Identifier: CA5765915
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs532849742
ExAC: 10:135186812 G / A
gnomAD v2: 10-135186812-G-A
gnomAD v3: 10-133373308-G-A
gnomAD v4: 10-133373308-G-A
MyVariant Identifiers: chr10:g.135186812G>A (hg19) chr10:g.133373308G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373308G>A , CM000672.2:g.133373308G>A GRCh38
NC_000010.10:g.135186812G>A , CM000672.1:g.135186812G>A GRCh37
NC_000010.9:g.135036802G>A NCBI36
NG_042077.1:g.5097C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.26C>T MANE Select ENSP00000357535.3:p.Ser9Phe
ENST00000368547.3:c.26C>T ENSP00000357535.3:p.Ser9Phe
NM_004092.3:c.26C>T NP_004083.3:p.Ser9Phe
XR_002956965.1:n.89C>T
NM_004092.4:c.26C>T MANE Select NP_004083.3:p.Ser9Phe
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