Canonical Allele Identifier: CA648005054

Gene: BCHE

Linked Data

• COSMIC: COSN1083373

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831042C>A , CM000665.2:g.165831042C>A	GRCh38
NC_000003.11:g.165548830C>A , CM000665.1:g.165548830C>A	GRCh37
NC_000003.10:g.167031524C>A	NCBI36
NG_009031.1:g.11424G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.-8-1G>T MANE Select	ENSP00000264381.3:n.-8-1G>T
ENST00000264381.7:c.-8-1G>T	ENSP00000264381.3:n.-8-1G>T
ENST00000479451.5:c.107+6272G>T	ENSP00000418325.1:n.107+6272G>T
ENST00000482958.1:c.-8-1G>T	ENSP00000419804.1:n.-8-1G>T
ENST00000488954.1:c.107+6272G>T	ENSP00000418504.1:n.107+6272G>T
ENST00000497011.5:c.-8-1G>T	ENSP00000419505.1:n.-8-1G>T
NM_000055.2:c.-8-1G>T	NP_000046.1:n.-8-1G>T
XM_005247685.1:c.116-1G>T	XP_005247742.1:n.116-1G>T
NM_000055.3:c.-8-1G>T	NP_000046.1:n.-8-1G>T
NR_137635.1:n.159+6272G>T
NR_137636.1:n.160-1G>T
NM_000055.4:c.-8-1G>T MANE Select	NP_000046.1:n.-8-1G>T
NR_137635.2:n.110+6272G>T
NR_137636.2:n.111-1G>T