Canonical Allele Identifier: CA1946721099
Community Standard Title: NM_004092.4(ECHS1):c.2T= (p.Met1=)
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373332A= , CM000672.2:g.133373332A= GRCh38
NC_000010.10:g.135186836A= , CM000672.1:g.135186836A= GRCh37
NC_000010.9:g.135036826A= NCBI36
NG_042077.1:g.5073T=

Transcript Alleles

HGVS Amino-acid Change
NM_004092.4:c.2T= MANE Select NP_004083.3:p.Met1=
ENST00000368547.4:c.2T= MANE Select ENSP00000357535.3:p.Met1=
NM_004092.3:c.2T= NP_004083.3:p.Met1=
ENST00000368547.3:c.2T= ENSP00000357535.3:p.Met1=
XR_002956965.1:n.65T=