Canonical Allele Identifier: CA355113554

Gene: BCHE

Linked Data

• dbSNP Id: rs1334341809
• gnomAD v2: 3-165548730-T-C
• gnomAD v4: 3-165830942-T-C
• COSMIC: COSM1040859
• MyVariant Identifiers: chr3:g.165548730T>C (hg19) ; chr3:g.165830942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830942T>C , CM000665.2:g.165830942T>C	GRCh38
NC_000003.11:g.165548730T>C , CM000665.1:g.165548730T>C	GRCh37
NC_000003.10:g.167031424T>C	NCBI36
NG_009031.1:g.11524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.92A>G MANE Select	ENSP00000264381.3:p.Asp31Gly
ENST00000264381.7:c.92A>G	ENSP00000264381.3:p.Asp31Gly
ENST00000479451.5:c.107+6372A>G	ENSP00000418325.1:n.107+6372A>G
ENST00000482958.1:c.92A>G	ENSP00000419804.1:p.Asp31Gly
ENST00000488954.1:c.107+6372A>G	ENSP00000418504.1:n.107+6372A>G
ENST00000497011.5:c.92A>G	ENSP00000419505.1:p.Asp31Gly
NM_000055.2:c.92A>G	NP_000046.1:p.Asp31Gly
XM_005247685.1:c.215A>G	XP_005247742.1:p.Asp72Gly
NM_000055.3:c.92A>G	NP_000046.1:p.Asp31Gly
NR_137635.1:n.159+6372A>G
NR_137636.1:n.259A>G
NM_000055.4:c.92A>G MANE Select	NP_000046.1:p.Asp31Gly
NR_137635.2:n.110+6372A>G
NR_137636.2:n.210A>G