Canonical Allele Identifier: CA355110231

Gene: BCHE

Linked Data

• gnomAD v4: 3-165786210-G-T
• MyVariant Identifiers: chr3:g.165503998G>T (hg19) ; chr3:g.165786210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786210G>T , CM000665.2:g.165786210G>T	GRCh38
NC_000003.11:g.165503998G>T , CM000665.1:g.165503998G>T	GRCh37
NC_000003.10:g.166986692G>T	NCBI36
NG_009031.1:g.56256C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1619C>A MANE Select	ENSP00000264381.3:p.Thr540Lys
ENST00000264381.7:c.1619C>A	ENSP00000264381.3:p.Thr540Lys
ENST00000479451.5:c.209C>A	ENSP00000418325.1:p.Thr70Lys
ENST00000482958.1:c.*125C>A	ENSP00000419804.1:n.*125C>A
ENST00000488954.1:c.209C>A	ENSP00000418504.1:p.Thr70Lys
ENST00000497011.5:c.1619C>A	ENSP00000419505.1:p.Thr540Lys
NM_000055.2:c.1619C>A	NP_000046.1:p.Thr540Lys
XM_005247685.1:c.1742C>A	XP_005247742.1:p.Thr581Lys
NM_000055.3:c.1619C>A	NP_000046.1:p.Thr540Lys
NR_137635.1:n.261C>A
NR_137636.1:n.1786C>A
NM_000055.4:c.1619C>A MANE Select	NP_000046.1:p.Thr540Lys
NR_137635.2:n.212C>A
NR_137636.2:n.1737C>A