Canonical Allele Identifier: CA648020359

Gene: BCHE

Linked Data

• dbSNP Id: rs191995340
• gnomAD v4: 3-165773326-G-A
• COSMIC: COSN7832624

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773326G>A , CM000665.2:g.165773326G>A	GRCh38
NC_000003.11:g.165491114G>A , CM000665.1:g.165491114G>A	GRCh37
NC_000003.10:g.166973808G>A	NCBI36
NG_009031.1:g.69140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*56C>T MANE Select	ENSP00000264381.3:n.*56C>T
ENST00000264381.7:c.*56C>T	ENSP00000264381.3:n.*56C>T
ENST00000479451.5:c.455C>T	ENSP00000418325.1:n.455C>T
ENST00000482958.1:c.*371C>T	ENSP00000419804.1:n.*371C>T
ENST00000497011.5:c.*255C>T	ENSP00000419505.1:n.*255C>T
NM_000055.2:c.*56C>T	NP_000046.1:n.*56C>T
XM_005247685.1:c.*56C>T	XP_005247742.1:n.*56C>T
NM_000055.3:c.*56C>T	NP_000046.1:n.*56C>T
NR_137635.1:n.507C>T
NR_137636.1:n.2111C>T
NM_000055.4:c.*56C>T MANE Select	NP_000046.1:n.*56C>T
NR_137635.2:n.458C>T
NR_137636.2:n.2062C>T