Canonical Allele Identifier: CA2668431218

Gene: BCHE

Linked Data

• gnomAD v4: 3-165786441-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786441T>C , CM000665.2:g.165786441T>C	GRCh38
NC_000003.11:g.165504229T>C , CM000665.1:g.165504229T>C	GRCh37
NC_000003.10:g.166986923T>C	NCBI36
NG_009031.1:g.56025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-130A>G MANE Select	ENSP00000264381.3:n.1518-130A>G
ENST00000264381.7:c.1518-130A>G	ENSP00000264381.3:n.1518-130A>G
ENST00000479451.5:c.108-130A>G	ENSP00000418325.1:n.108-130A>G
ENST00000482958.1:c.*24-130A>G	ENSP00000419804.1:n.*24-130A>G
ENST00000488954.1:c.108-130A>G	ENSP00000418504.1:n.108-130A>G
ENST00000497011.5:c.1518-130A>G	ENSP00000419505.1:n.1518-130A>G
NM_000055.2:c.1518-130A>G	NP_000046.1:n.1518-130A>G
XM_005247685.1:c.1641-130A>G	XP_005247742.1:n.1641-130A>G
NM_000055.3:c.1518-130A>G	NP_000046.1:n.1518-130A>G
NR_137635.1:n.160-130A>G
NR_137636.1:n.1685-130A>G
NM_000055.4:c.1518-130A>G MANE Select	NP_000046.1:n.1518-130A>G
NR_137635.2:n.111-130A>G
NR_137636.2:n.1636-130A>G