Canonical Allele Identifier: CA2692248

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786186C>A , CM000665.2:g.165786186C>A	GRCh38
NC_000003.11:g.165503974C>A , CM000665.1:g.165503974C>A	GRCh37
NC_000003.10:g.166986668C>A	NCBI36
NG_009031.1:g.56280G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.1643G>T MANE Select	NP_000046.1:p.Arg548Leu
ENST00000264381.8:c.1643G>T MANE Select	ENSP00000264381.3:p.Arg548Leu
NM_000055.2:c.1643G>T	NP_000046.1:p.Arg548Leu
NM_000055.3:c.1643G>T	NP_000046.1:p.Arg548Leu
NR_137635.1:n.285G>T
NR_137635.2:n.236G>T
NR_137636.1:n.1810G>T
NR_137636.2:n.1761G>T
ENST00000264381.7:c.1643G>T	ENSP00000264381.3:p.Arg548Leu
ENST00000479451.5:c.233G>T	ENSP00000418325.1:p.Arg78Leu
ENST00000482958.1:c.*149G>T	ENSP00000419804.1:n.*149G>T
ENST00000488954.1:c.233G>T	ENSP00000418504.1:p.Arg78Leu
ENST00000497011.5:c.1643G>T	ENSP00000419505.1:p.Arg548Leu
XM_005247685.1:c.1766G>T	XP_005247742.1:p.Arg589Leu