Canonical Allele Identifier: CA436818487

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165504003T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786215T>G , CM000665.2:g.165786215T>G	GRCh38
NC_000003.11:g.165504003T>G , CM000665.1:g.165504003T>G	GRCh37
NC_000003.10:g.166986697T>G	NCBI36
NG_009031.1:g.56251A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1614A>C MANE Select	ENSP00000264381.3:p.Ile538=
ENST00000264381.7:c.1614A>C	ENSP00000264381.3:p.Ile538=
ENST00000479451.5:c.204A>C	ENSP00000418325.1:p.Ile68=
ENST00000482958.1:c.*120A>C	ENSP00000419804.1:n.*120A>C
ENST00000488954.1:c.204A>C	ENSP00000418504.1:p.Ile68=
ENST00000497011.5:c.1614A>C	ENSP00000419505.1:p.Ile538=
NM_000055.2:c.1614A>C	NP_000046.1:p.Ile538=
XM_005247685.1:c.1737A>C	XP_005247742.1:p.Ile579=
NM_000055.3:c.1614A>C	NP_000046.1:p.Ile538=
NR_137635.1:n.256A>C
NR_137636.1:n.1781A>C
NM_000055.4:c.1614A>C MANE Select	NP_000046.1:p.Ile538=
NR_137635.2:n.207A>C
NR_137636.2:n.1732A>C