Canonical Allele Identifier: CA378818307
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135179480C>G (hg19) chr10:g.133365976C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365976C>G , CM000672.2:g.133365976C>G GRCh38
NC_000010.10:g.135179480C>G , CM000672.1:g.135179480C>G GRCh37
NC_000010.9:g.135029470C>G NCBI36
NG_042077.1:g.12429G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368547.4:c.739G>C MANE Select ENSP00000357535.3:p.Ala247Pro
ENST00000368547.3:c.739G>C ENSP00000357535.3:p.Ala247Pro
NM_004092.3:c.739G>C NP_004083.3:p.Ala247Pro
XR_002956965.1:n.1595G>C
NM_004092.4:c.739G>C MANE Select NP_004083.3:p.Ala247Pro
Search 100 bp 5'
Search 100 bp 3'