Canonical Allele Identifier: CA1055955456

Gene: BCHE

Linked Data

• dbSNP Id: rs1713520842
• gnomAD v3: 3-165798675-T-A
• gnomAD v4: 3-165798675-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165798675T>A , CM000665.2:g.165798675T>A	GRCh38
NC_000003.11:g.165516463T>A , CM000665.1:g.165516463T>A	GRCh37
NC_000003.10:g.166999157T>A	NCBI36
NG_009031.1:g.43791A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1518-12364A>T MANE Select	ENSP00000264381.3:n.1518-12364A>T
ENST00000264381.7:c.1518-12364A>T	ENSP00000264381.3:n.1518-12364A>T
ENST00000479451.5:c.108-12364A>T	ENSP00000418325.1:n.108-12364A>T
ENST00000482958.1:c.*24-12364A>T	ENSP00000419804.1:n.*24-12364A>T
ENST00000488954.1:c.108-12364A>T	ENSP00000418504.1:n.108-12364A>T
ENST00000497011.5:c.1518-12364A>T	ENSP00000419505.1:n.1518-12364A>T
NM_000055.2:c.1518-12364A>T	NP_000046.1:n.1518-12364A>T
XM_005247685.1:c.1641-12364A>T	XP_005247742.1:n.1641-12364A>T
NM_000055.3:c.1518-12364A>T	NP_000046.1:n.1518-12364A>T
NR_137635.1:n.160-12364A>T
NR_137636.1:n.1685-12364A>T
NM_000055.4:c.1518-12364A>T MANE Select	NP_000046.1:n.1518-12364A>T
NR_137635.2:n.111-12364A>T
NR_137636.2:n.1636-12364A>T