Canonical Allele Identifier: CA355111891

Gene: BCHE

Linked Data

• dbSNP Id: rs2081378434
• gnomAD v4: 3-165830162-C-A
• MyVariant Identifiers: chr3:g.165547950C>A (hg19) ; chr3:g.165830162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830162C>A , CM000665.2:g.165830162C>A	GRCh38
NC_000003.11:g.165547950C>A , CM000665.1:g.165547950C>A	GRCh37
NC_000003.10:g.167030644C>A	NCBI36
NG_009031.1:g.12304G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.872G>T MANE Select	ENSP00000264381.3:p.Cys291Phe
ENST00000264381.7:c.872G>T	ENSP00000264381.3:p.Cys291Phe
ENST00000479451.5:c.107+7152G>T	ENSP00000418325.1:n.107+7152G>T
ENST00000482958.1:c.872G>T	ENSP00000419804.1:p.Cys291Phe
ENST00000488954.1:c.107+7152G>T	ENSP00000418504.1:n.107+7152G>T
ENST00000497011.5:c.872G>T	ENSP00000419505.1:p.Cys291Phe
NM_000055.2:c.872G>T	NP_000046.1:p.Cys291Phe
XM_005247685.1:c.995G>T	XP_005247742.1:p.Cys332Phe
NM_000055.3:c.872G>T	NP_000046.1:p.Cys291Phe
NR_137635.1:n.159+7152G>T
NR_137636.1:n.1039G>T
NM_000055.4:c.872G>T MANE Select	NP_000046.1:p.Cys291Phe
NR_137635.2:n.110+7152G>T
NR_137636.2:n.990G>T