Canonical Allele Identifier: CA2668432419

Gene: BCHE

Linked Data

• gnomAD v4: 3-165831040-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831040T>G , CM000665.2:g.165831040T>G	GRCh38
NC_000003.11:g.165548828T>G , CM000665.1:g.165548828T>G	GRCh37
NC_000003.10:g.167031522T>G	NCBI36
NG_009031.1:g.11426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.-7A>C MANE Select	ENSP00000264381.3:n.-7A>C
ENST00000264381.7:c.-7A>C	ENSP00000264381.3:n.-7A>C
ENST00000479451.5:c.107+6274A>C	ENSP00000418325.1:n.107+6274A>C
ENST00000482958.1:c.-7A>C	ENSP00000419804.1:n.-7A>C
ENST00000488954.1:c.107+6274A>C	ENSP00000418504.1:n.107+6274A>C
ENST00000497011.5:c.-7A>C	ENSP00000419505.1:n.-7A>C
NM_000055.2:c.-7A>C	NP_000046.1:n.-7A>C
XM_005247685.1:c.117A>C	XP_005247742.1:p.Glu39Asp
NM_000055.3:c.-7A>C	NP_000046.1:n.-7A>C
NR_137635.1:n.159+6274A>C
NR_137636.1:n.161A>C
NM_000055.4:c.-7A>C MANE Select	NP_000046.1:n.-7A>C
NR_137635.2:n.110+6274A>C
NR_137636.2:n.112A>C