Canonical Allele Identifier: CA2522050569

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786486G>C , CM000665.2:g.165786486G>C	GRCh38
NC_000003.11:g.165504274G>C , CM000665.1:g.165504274G>C	GRCh37
NC_000003.10:g.166986968G>C	NCBI36
NG_009031.1:g.55980C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-175C>G MANE Select	ENSP00000264381.3:n.1518-175C>G
ENST00000264381.7:c.1518-175C>G	ENSP00000264381.3:n.1518-175C>G
ENST00000479451.5:c.108-175C>G	ENSP00000418325.1:n.108-175C>G
ENST00000482958.1:c.*24-175C>G	ENSP00000419804.1:n.*24-175C>G
ENST00000488954.1:c.108-175C>G	ENSP00000418504.1:n.108-175C>G
ENST00000497011.5:c.1518-175C>G	ENSP00000419505.1:n.1518-175C>G
NM_000055.2:c.1518-175C>G	NP_000046.1:n.1518-175C>G
XM_005247685.1:c.1641-175C>G	XP_005247742.1:n.1641-175C>G
NM_000055.3:c.1518-175C>G	NP_000046.1:n.1518-175C>G
NR_137635.1:n.160-175C>G
NR_137636.1:n.1685-175C>G
NM_000055.4:c.1518-175C>G MANE Select	NP_000046.1:n.1518-175C>G
NR_137635.2:n.111-175C>G
NR_137636.2:n.1636-175C>G