Canonical Allele Identifier: CA436818525

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165504057G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786269G>C , CM000665.2:g.165786269G>C	GRCh38
NC_000003.11:g.165504057G>C , CM000665.1:g.165504057G>C	GRCh37
NC_000003.10:g.166986751G>C	NCBI36
NG_009031.1:g.56197C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1560C>G MANE Select	ENSP00000264381.3:p.Val520=
ENST00000264381.7:c.1560C>G	ENSP00000264381.3:p.Val520=
ENST00000479451.5:c.150C>G	ENSP00000418325.1:p.Val50=
ENST00000482958.1:c.*66C>G	ENSP00000419804.1:n.*66C>G
ENST00000488954.1:c.150C>G	ENSP00000418504.1:p.Val50=
ENST00000497011.5:c.1560C>G	ENSP00000419505.1:p.Val520=
NM_000055.2:c.1560C>G	NP_000046.1:p.Val520=
XM_005247685.1:c.1683C>G	XP_005247742.1:p.Val561=
NM_000055.3:c.1560C>G	NP_000046.1:p.Val520=
NR_137635.1:n.202C>G
NR_137636.1:n.1727C>G
NM_000055.4:c.1560C>G MANE Select	NP_000046.1:p.Val520=
NR_137635.2:n.153C>G
NR_137636.2:n.1678C>G