Canonical Allele Identifier: CA472218155
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1324198051
gnomAD v4: 10-133366001-C-A
MyVariant Identifiers: chr10:g.135179505C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366001C>A , CM000672.2:g.133366001C>A GRCh38
NC_000010.10:g.135179505C>A , CM000672.1:g.135179505C>A GRCh37
NC_000010.9:g.135029495C>A NCBI36
NG_042077.1:g.12404G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.714G>T MANE Select ENSP00000357535.3:p.Ala238=
ENST00000368547.3:c.714G>T ENSP00000357535.3:p.Ala238=
NM_004092.3:c.714G>T NP_004083.3:p.Ala238=
XR_002956965.1:n.1570G>T
NM_004092.4:c.714G>T MANE Select NP_004083.3:p.Ala238=
Search 100 bp 5'
Search 100 bp 3'