Canonical Allele Identifier: CA2668409031

Gene: BCHE

Linked Data

• gnomAD v4: 3-165773318-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773318A>C , CM000665.2:g.165773318A>C	GRCh38
NC_000003.11:g.165491106A>C , CM000665.1:g.165491106A>C	GRCh37
NC_000003.10:g.166973800A>C	NCBI36
NG_009031.1:g.69148T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*64T>G MANE Select	ENSP00000264381.3:n.*64T>G
ENST00000264381.7:c.*64T>G	ENSP00000264381.3:n.*64T>G
ENST00000479451.5:c.463T>G	ENSP00000418325.1:n.463T>G
ENST00000482958.1:c.*379T>G	ENSP00000419804.1:n.*379T>G
ENST00000497011.5:c.*263T>G	ENSP00000419505.1:n.*263T>G
NM_000055.2:c.*64T>G	NP_000046.1:n.*64T>G
XM_005247685.1:c.*64T>G	XP_005247742.1:n.*64T>G
NM_000055.3:c.*64T>G	NP_000046.1:n.*64T>G
NR_137635.1:n.515T>G
NR_137636.1:n.2119T>G
NM_000055.4:c.*64T>G MANE Select	NP_000046.1:n.*64T>G
NR_137635.2:n.466T>G
NR_137636.2:n.2070T>G