Canonical Allele Identifier: CA355110257

Gene: BCHE

Linked Data

• dbSNP Id: rs1452398701
• gnomAD v2: 3-165504010-G-A
• gnomAD v4: 3-165786222-G-A
• MyVariant Identifiers: chr3:g.165504010G>A (hg19) ; chr3:g.165786222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786222G>A , CM000665.2:g.165786222G>A	GRCh38
NC_000003.11:g.165504010G>A , CM000665.1:g.165504010G>A	GRCh37
NC_000003.10:g.166986704G>A	NCBI36
NG_009031.1:g.56244C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1607C>T MANE Select	ENSP00000264381.3:p.Thr536Ile
ENST00000264381.7:c.1607C>T	ENSP00000264381.3:p.Thr536Ile
ENST00000479451.5:c.197C>T	ENSP00000418325.1:p.Thr66Ile
ENST00000482958.1:c.*113C>T	ENSP00000419804.1:n.*113C>T
ENST00000488954.1:c.197C>T	ENSP00000418504.1:p.Thr66Ile
ENST00000497011.5:c.1607C>T	ENSP00000419505.1:p.Thr536Ile
NM_000055.2:c.1607C>T	NP_000046.1:p.Thr536Ile
XM_005247685.1:c.1730C>T	XP_005247742.1:p.Thr577Ile
NM_000055.3:c.1607C>T	NP_000046.1:p.Thr536Ile
NR_137635.1:n.249C>T
NR_137636.1:n.1774C>T
NM_000055.4:c.1607C>T MANE Select	NP_000046.1:p.Thr536Ile
NR_137635.2:n.200C>T
NR_137636.2:n.1725C>T