Canonical Allele Identifier: CA355111641

Gene: BCHE

Linked Data

• dbSNP Id: rs762936157
• gnomAD v3: 3-165830044-C-A
• gnomAD v4: 3-165830044-C-A
• MyVariant Identifiers: chr3:g.165547832C>A (hg19) ; chr3:g.165830044C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830044C>A , CM000665.2:g.165830044C>A	GRCh38
NC_000003.11:g.165547832C>A , CM000665.1:g.165547832C>A	GRCh37
NC_000003.10:g.167030526C>A	NCBI36
NG_009031.1:g.12422G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.990G>T MANE Select	ENSP00000264381.3:p.Met330Ile
ENST00000264381.7:c.990G>T	ENSP00000264381.3:p.Met330Ile
ENST00000479451.5:c.107+7270G>T	ENSP00000418325.1:n.107+7270G>T
ENST00000482958.1:c.990G>T	ENSP00000419804.1:p.Met330Ile
ENST00000488954.1:c.107+7270G>T	ENSP00000418504.1:n.107+7270G>T
ENST00000497011.5:c.990G>T	ENSP00000419505.1:p.Met330Ile
NM_000055.2:c.990G>T	NP_000046.1:p.Met330Ile
XM_005247685.1:c.1113G>T	XP_005247742.1:p.Met371Ile
NM_000055.3:c.990G>T	NP_000046.1:p.Met330Ile
NR_137635.1:n.159+7270G>T
NR_137636.1:n.1157G>T
NM_000055.4:c.990G>T MANE Select	NP_000046.1:p.Met330Ile
NR_137635.2:n.110+7270G>T
NR_137636.2:n.1108G>T