Canonical Allele Identifier: CA378818270
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1252603281
gnomAD v2: 10-135179478-A-G
gnomAD v3: 10-133365974-A-G
gnomAD v4: 10-133365974-A-G
MyVariant Identifiers: chr10:g.135179478A>G (hg19) chr10:g.133365974A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365974A>G , CM000672.2:g.133365974A>G GRCh38
NC_000010.10:g.135179478A>G , CM000672.1:g.135179478A>G GRCh37
NC_000010.9:g.135029468A>G NCBI36
NG_042077.1:g.12431T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368547.4:c.739+2T>C MANE Select ENSP00000357535.3:n.739+2T>C
ENST00000368547.3:c.739+2T>C ENSP00000357535.3:n.739+2T>C
NM_004092.3:c.739+2T>C NP_004083.3:n.739+2T>C
XR_002956965.1:n.1595+2T>C
NM_004092.4:c.739+2T>C MANE Select NP_004083.3:n.739+2T>C
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