Canonical Allele Identifier: CA2574717371
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133365951-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365951A>G , CM000672.2:g.133365951A>G GRCh38
NC_000010.10:g.135179455A>G , CM000672.1:g.135179455A>G GRCh37
NC_000010.9:g.135029445A>G NCBI36
NG_042077.1:g.12454T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368547.4:c.739+25T>C MANE Select ENSP00000357535.3:n.739+25T>C
ENST00000368547.3:c.739+25T>C ENSP00000357535.3:n.739+25T>C
NM_004092.3:c.739+25T>C NP_004083.3:n.739+25T>C
XR_002956965.1:n.1595+25T>C
NM_004092.4:c.739+25T>C MANE Select NP_004083.3:n.739+25T>C
Search 100 bp 5'
Search 100 bp 3'