Canonical Allele Identifier: CA87396397
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165773033C>T , CM000665.2:g.165773033C>T GRCh38
NC_000003.11:g.165490821C>T , CM000665.1:g.165490821C>T GRCh37
NC_000003.10:g.166973515C>T NCBI36
NG_009031.1:g.69433G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.*349G>A MANE Select ENSP00000264381.3:n.*349G>A
ENST00000264381.7:c.*349G>A ENSP00000264381.3:n.*349G>A
ENST00000482958.1:c.*664G>A ENSP00000419804.1:n.*664G>A
ENST00000497011.5:c.*548G>A ENSP00000419505.1:n.*548G>A
NM_000055.2:c.*349G>A NP_000046.1:n.*349G>A
XM_005247685.1:c.*349G>A XP_005247742.1:n.*349G>A
NM_000055.3:c.*349G>A NP_000046.1:n.*349G>A
NR_137635.1:n.800G>A
NR_137636.1:n.2404G>A
NM_000055.4:c.*349G>A MANE Select NP_000046.1:n.*349G>A
NR_137635.2:n.751G>A
NR_137636.2:n.2355G>A