Canonical Allele Identifier: CA355110235

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165504000C>A (hg19) ; chr3:g.165786212C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786212C>A , CM000665.2:g.165786212C>A	GRCh38
NC_000003.11:g.165504000C>A , CM000665.1:g.165504000C>A	GRCh37
NC_000003.10:g.166986694C>A	NCBI36
NG_009031.1:g.56254G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1617G>T MANE Select	ENSP00000264381.3:p.Met539Ile
ENST00000264381.7:c.1617G>T	ENSP00000264381.3:p.Met539Ile
ENST00000479451.5:c.207G>T	ENSP00000418325.1:p.Met69Ile
ENST00000482958.1:c.*123G>T	ENSP00000419804.1:n.*123G>T
ENST00000488954.1:c.207G>T	ENSP00000418504.1:p.Met69Ile
ENST00000497011.5:c.1617G>T	ENSP00000419505.1:p.Met539Ile
NM_000055.2:c.1617G>T	NP_000046.1:p.Met539Ile
XM_005247685.1:c.1740G>T	XP_005247742.1:p.Met580Ile
NM_000055.3:c.1617G>T	NP_000046.1:p.Met539Ile
NR_137635.1:n.259G>T
NR_137636.1:n.1784G>T
NM_000055.4:c.1617G>T MANE Select	NP_000046.1:p.Met539Ile
NR_137635.2:n.210G>T
NR_137636.2:n.1735G>T