Canonical Allele Identifier: CA2668409047

Gene: BCHE

Linked Data

• gnomAD v4: 3-165773349-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773349G>T , CM000665.2:g.165773349G>T	GRCh38
NC_000003.11:g.165491137G>T , CM000665.1:g.165491137G>T	GRCh37
NC_000003.10:g.166973831G>T	NCBI36
NG_009031.1:g.69117C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*33C>A MANE Select	ENSP00000264381.3:n.*33C>A
ENST00000264381.7:c.*33C>A	ENSP00000264381.3:n.*33C>A
ENST00000479451.5:c.432C>A	ENSP00000418325.1:n.432C>A
ENST00000482958.1:c.*348C>A	ENSP00000419804.1:n.*348C>A
ENST00000497011.5:c.*232C>A	ENSP00000419505.1:n.*232C>A
NM_000055.2:c.*33C>A	NP_000046.1:n.*33C>A
XM_005247685.1:c.*33C>A	XP_005247742.1:n.*33C>A
NM_000055.3:c.*33C>A	NP_000046.1:n.*33C>A
NR_137635.1:n.484C>A
NR_137636.1:n.2088C>A
NM_000055.4:c.*33C>A MANE Select	NP_000046.1:n.*33C>A
NR_137635.2:n.435C>A
NR_137636.2:n.2039C>A