Canonical Allele Identifier: CA2692556

Gene: BCHE

Linked Data

• dbSNP Id: rs377250579
• ExAC: 3:165548661 G / A
• gnomAD v2: 3-165548661-G-A
• MyVariant Identifiers: chr3:g.165548661G>A (hg19) ; chr3:g.165830873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830873G>A , CM000665.2:g.165830873G>A	GRCh38
NC_000003.11:g.165548661G>A , CM000665.1:g.165548661G>A	GRCh37
NC_000003.10:g.167031355G>A	NCBI36
NG_009031.1:g.11593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.161C>T MANE Select	ENSP00000264381.3:p.Thr54Ile
ENST00000264381.7:c.161C>T	ENSP00000264381.3:p.Thr54Ile
ENST00000479451.5:c.107+6441C>T	ENSP00000418325.1:n.107+6441C>T
ENST00000482958.1:c.161C>T	ENSP00000419804.1:p.Thr54Ile
ENST00000488954.1:c.107+6441C>T	ENSP00000418504.1:n.107+6441C>T
ENST00000497011.5:c.161C>T	ENSP00000419505.1:p.Thr54Ile
NM_000055.2:c.161C>T	NP_000046.1:p.Thr54Ile
XM_005247685.1:c.284C>T	XP_005247742.1:p.Thr95Ile
NM_000055.3:c.161C>T	NP_000046.1:p.Thr54Ile
NR_137635.1:n.159+6441C>T
NR_137636.1:n.328C>T
NM_000055.4:c.161C>T MANE Select	NP_000046.1:p.Thr54Ile
NR_137635.2:n.110+6441C>T
NR_137636.2:n.279C>T