Canonical Allele Identifier: CA661960335
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1306284035
MyVariant Identifiers: chr10:g.135179465T>C (hg19) chr10:g.133365961T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365961T>C , CM000672.2:g.133365961T>C GRCh38
NC_000010.10:g.135179465T>C , CM000672.1:g.135179465T>C GRCh37
NC_000010.9:g.135029455T>C NCBI36
NG_042077.1:g.12444A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000368547.4:c.739+15A>G MANE Select ENSP00000357535.3:n.739+15A>G
ENST00000368547.3:c.739+15A>G ENSP00000357535.3:n.739+15A>G
NM_004092.3:c.739+15A>G NP_004083.3:n.739+15A>G
XR_002956965.1:n.1595+15A>G
NM_004092.4:c.739+15A>G MANE Select NP_004083.3:n.739+15A>G
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