Canonical Allele Identifier: CA5765733

Gene: ECHS1

Linked Data

• ClinVar Variation Id: 377257
• ClinVar RCV Id: RCV000421257 ; RCV000578195 ; RCV001267047
• dbSNP Id: rs150321966
• ExAC: 10:135180494 G / A
• gnomAD v2: 10-135180494-G-A
• gnomAD v3: 10-133366990-G-A
• gnomAD v4: 10-133366990-G-A
• MyVariant Identifiers: chr10:g.135180494G>A (hg19) ; chr10:g.133366990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366990G>A , CM000672.2:g.133366990G>A	GRCh38
NC_000010.10:g.135180494G>A , CM000672.1:g.135180494G>A	GRCh37
NC_000010.9:g.135030484G>A	NCBI36
NG_042077.1:g.11415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.518C>T MANE Select	ENSP00000357535.3:p.Ala173Val
ENST00000368547.3:c.518C>T	ENSP00000357535.3:p.Ala173Val
NM_004092.3:c.518C>T	NP_004083.3:p.Ala173Val
XR_002956965.1:n.581C>T
NM_004092.4:c.518C>T MANE Select	NP_004083.3:p.Ala173Val