Canonical Allele Identifier: CA355112170

Gene: BCHE

Linked Data

• dbSNP Id: rs1228056082
• gnomAD v2: 3-165548080-C-T
• gnomAD v4: 3-165830292-C-T
• MyVariant Identifiers: chr3:g.165548080C>T (hg19) ; chr3:g.165830292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830292C>T , CM000665.2:g.165830292C>T	GRCh38
NC_000003.11:g.165548080C>T , CM000665.1:g.165548080C>T	GRCh37
NC_000003.10:g.167030774C>T	NCBI36
NG_009031.1:g.12174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.742G>A MANE Select	ENSP00000264381.3:p.Ala248Thr
ENST00000264381.7:c.742G>A	ENSP00000264381.3:p.Ala248Thr
ENST00000479451.5:c.107+7022G>A	ENSP00000418325.1:n.107+7022G>A
ENST00000482958.1:c.742G>A	ENSP00000419804.1:p.Ala248Thr
ENST00000488954.1:c.107+7022G>A	ENSP00000418504.1:n.107+7022G>A
ENST00000497011.5:c.742G>A	ENSP00000419505.1:p.Ala248Thr
NM_000055.2:c.742G>A	NP_000046.1:p.Ala248Thr
XM_005247685.1:c.865G>A	XP_005247742.1:p.Ala289Thr
NM_000055.3:c.742G>A	NP_000046.1:p.Ala248Thr
NR_137635.1:n.159+7022G>A
NR_137636.1:n.909G>A
NM_000055.4:c.742G>A MANE Select	NP_000046.1:p.Ala248Thr
NR_137635.2:n.110+7022G>A
NR_137636.2:n.860G>A