Canonical Allele Identifier: CA2611597143
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2133439663
gnomAD v4: 10-133365955-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365955T>G , CM000672.2:g.133365955T>G GRCh38
NC_000010.10:g.135179459T>G , CM000672.1:g.135179459T>G GRCh37
NC_000010.9:g.135029449T>G NCBI36
NG_042077.1:g.12450A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368547.4:c.739+21A>C MANE Select ENSP00000357535.3:n.739+21A>C
ENST00000368547.3:c.739+21A>C ENSP00000357535.3:n.739+21A>C
NM_004092.3:c.739+21A>C NP_004083.3:n.739+21A>C
XR_002956965.1:n.1595+21A>C
NM_004092.4:c.739+21A>C MANE Select NP_004083.3:n.739+21A>C
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