Canonical Allele Identifier: CA596744739
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1381014705
gnomAD v2: 10-135186888-G-A
gnomAD v3: 10-133373384-G-A
gnomAD v4: 10-133373384-G-A
MyVariant Identifiers: chr10:g.135186888G>A (hg19) chr10:g.133373384G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373384G>A , CM000672.2:g.133373384G>A GRCh38
NC_000010.10:g.135186888G>A , CM000672.1:g.135186888G>A GRCh37
NC_000010.9:g.135036878G>A NCBI36
NG_042077.1:g.5021C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-51C>T ENSP00000357535.3:n.-51C>T
NM_004092.3:c.-51C>T NP_004083.3:n.-51C>T
XR_002956965.1:n.13C>T
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