Canonical Allele Identifier: CA2692416

Gene: BCHE

Linked Data

• dbSNP Id: rs752365776
• ExAC: 3:165547959 A / G
• gnomAD v2: 3-165547959-A-G
• gnomAD v4: 3-165830171-A-G
• MyVariant Identifiers: chr3:g.165547959A>G (hg19) ; chr3:g.165830171A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830171A>G , CM000665.2:g.165830171A>G	GRCh38
NC_000003.11:g.165547959A>G , CM000665.1:g.165547959A>G	GRCh37
NC_000003.10:g.167030653A>G	NCBI36
NG_009031.1:g.12295T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.863T>C MANE Select	ENSP00000264381.3:p.Ile288Thr
ENST00000264381.7:c.863T>C	ENSP00000264381.3:p.Ile288Thr
ENST00000479451.5:c.107+7143T>C	ENSP00000418325.1:n.107+7143T>C
ENST00000482958.1:c.863T>C	ENSP00000419804.1:p.Ile288Thr
ENST00000488954.1:c.107+7143T>C	ENSP00000418504.1:n.107+7143T>C
ENST00000497011.5:c.863T>C	ENSP00000419505.1:p.Ile288Thr
NM_000055.2:c.863T>C	NP_000046.1:p.Ile288Thr
XM_005247685.1:c.986T>C	XP_005247742.1:p.Ile329Thr
NM_000055.3:c.863T>C	NP_000046.1:p.Ile288Thr
NR_137635.1:n.159+7143T>C
NR_137636.1:n.1030T>C
NM_000055.4:c.863T>C MANE Select	NP_000046.1:p.Ile288Thr
NR_137635.2:n.110+7143T>C
NR_137636.2:n.981T>C