Canonical Allele Identifier: CA661960727
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1284033542
gnomAD v3: 10-133366265-A-G
gnomAD v4: 10-133366265-A-G
MyVariant Identifiers: chr10:g.135179769A>G (hg19) chr10:g.133366265A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366265A>G , CM000672.2:g.133366265A>G GRCh38
NC_000010.10:g.135179769A>G , CM000672.1:g.135179769A>G GRCh37
NC_000010.9:g.135029759A>G NCBI36
NG_042077.1:g.12140T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-170T>C MANE Select ENSP00000357535.3:n.620-170T>C
ENST00000368547.3:c.620-170T>C ENSP00000357535.3:n.620-170T>C
NM_004092.3:c.620-170T>C NP_004083.3:n.620-170T>C
XR_002956965.1:n.1306T>C
NM_004092.4:c.620-170T>C MANE Select NP_004083.3:n.620-170T>C
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