Canonical Allele Identifier: CA216821115
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs928449973
gnomAD v4: 10-133373335-G-A
MyVariant Identifiers: chr10:g.135186839G>A (hg19) chr10:g.133373335G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373335G>A , CM000672.2:g.133373335G>A GRCh38
NC_000010.10:g.135186839G>A , CM000672.1:g.135186839G>A GRCh37
NC_000010.9:g.135036829G>A NCBI36
NG_042077.1:g.5070C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.-2C>T MANE Select ENSP00000357535.3:n.-2C>T
ENST00000368547.3:c.-2C>T ENSP00000357535.3:n.-2C>T
NM_004092.3:c.-2C>T NP_004083.3:n.-2C>T
XR_002956965.1:n.62C>T
NM_004092.4:c.-2C>T MANE Select NP_004083.3:n.-2C>T
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