Canonical Allele Identifier: CA436818498

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165504018T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786230T>C , CM000665.2:g.165786230T>C	GRCh38
NC_000003.11:g.165504018T>C , CM000665.1:g.165504018T>C	GRCh37
NC_000003.10:g.166986712T>C	NCBI36
NG_009031.1:g.56236A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1599A>G MANE Select	ENSP00000264381.3:p.Thr533=
ENST00000264381.7:c.1599A>G	ENSP00000264381.3:p.Thr533=
ENST00000479451.5:c.189A>G	ENSP00000418325.1:p.Thr63=
ENST00000482958.1:c.*105A>G	ENSP00000419804.1:n.*105A>G
ENST00000488954.1:c.189A>G	ENSP00000418504.1:p.Thr63=
ENST00000497011.5:c.1599A>G	ENSP00000419505.1:p.Thr533=
NM_000055.2:c.1599A>G	NP_000046.1:p.Thr533=
XM_005247685.1:c.1722A>G	XP_005247742.1:p.Thr574=
NM_000055.3:c.1599A>G	NP_000046.1:p.Thr533=
NR_137635.1:n.241A>G
NR_137636.1:n.1766A>G
NM_000055.4:c.1599A>G MANE Select	NP_000046.1:p.Thr533=
NR_137635.2:n.192A>G
NR_137636.2:n.1717A>G