Canonical Allele Identifier: CA355112270

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830339-A-C
• COSMIC: COSM6163566
• MyVariant Identifiers: chr3:g.165548127A>C (hg19) ; chr3:g.165830339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830339A>C , CM000665.2:g.165830339A>C	GRCh38
NC_000003.11:g.165548127A>C , CM000665.1:g.165548127A>C	GRCh37
NC_000003.10:g.167030821A>C	NCBI36
NG_009031.1:g.12127T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.695T>G MANE Select	ENSP00000264381.3:p.Val232Gly
ENST00000264381.7:c.695T>G	ENSP00000264381.3:p.Val232Gly
ENST00000479451.5:c.107+6975T>G	ENSP00000418325.1:n.107+6975T>G
ENST00000482958.1:c.695T>G	ENSP00000419804.1:p.Val232Gly
ENST00000488954.1:c.107+6975T>G	ENSP00000418504.1:n.107+6975T>G
ENST00000497011.5:c.695T>G	ENSP00000419505.1:p.Val232Gly
NM_000055.2:c.695T>G	NP_000046.1:p.Val232Gly
XM_005247685.1:c.818T>G	XP_005247742.1:p.Val273Gly
NM_000055.3:c.695T>G	NP_000046.1:p.Val232Gly
NR_137635.1:n.159+6975T>G
NR_137636.1:n.862T>G
NM_000055.4:c.695T>G MANE Select	NP_000046.1:p.Val232Gly
NR_137635.2:n.110+6975T>G
NR_137636.2:n.813T>G