Canonical Allele Identifier: CA2668409039

Gene: BCHE

Linked Data

• gnomAD v4: 3-165773331-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773331T>G , CM000665.2:g.165773331T>G	GRCh38
NC_000003.11:g.165491119T>G , CM000665.1:g.165491119T>G	GRCh37
NC_000003.10:g.166973813T>G	NCBI36
NG_009031.1:g.69135A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*51A>C MANE Select	ENSP00000264381.3:n.*51A>C
ENST00000264381.7:c.*51A>C	ENSP00000264381.3:n.*51A>C
ENST00000479451.5:c.450A>C	ENSP00000418325.1:n.450A>C
ENST00000482958.1:c.*366A>C	ENSP00000419804.1:n.*366A>C
ENST00000497011.5:c.*250A>C	ENSP00000419505.1:n.*250A>C
NM_000055.2:c.*51A>C	NP_000046.1:n.*51A>C
XM_005247685.1:c.*51A>C	XP_005247742.1:n.*51A>C
NM_000055.3:c.*51A>C	NP_000046.1:n.*51A>C
NR_137635.1:n.502A>C
NR_137636.1:n.2106A>C
NM_000055.4:c.*51A>C MANE Select	NP_000046.1:n.*51A>C
NR_137635.2:n.453A>C
NR_137636.2:n.2057A>C