Canonical Allele Identifier: CA1417710475

Gene: BCHE

Linked Data

• dbSNP Id: rs829508

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165784936C>A , CM000665.2:g.165784936C>A	GRCh38
NC_000003.11:g.165502724C>A , CM000665.1:g.165502724C>A	GRCh37
NC_000003.10:g.166985418C>A	NCBI36
NG_009031.1:g.57530G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1684+1209G>T MANE Select	ENSP00000264381.3:n.1684+1209G>T
ENST00000264381.7:c.1684+1209G>T	ENSP00000264381.3:n.1684+1209G>T
ENST00000479451.5:c.274+1209G>T	ENSP00000418325.1:n.274+1209G>T
ENST00000482958.1:c.*190+1209G>T	ENSP00000419804.1:n.*190+1209G>T
ENST00000488954.1:c.274+1209G>T	ENSP00000418504.1:n.274+1209G>T
ENST00000497011.5:c.1684+1209G>T	ENSP00000419505.1:n.1684+1209G>T
NM_000055.2:c.1684+1209G>T	NP_000046.1:n.1684+1209G>T
XM_005247685.1:c.1807+1209G>T	XP_005247742.1:n.1807+1209G>T
NM_000055.3:c.1684+1209G>T	NP_000046.1:n.1684+1209G>T
NR_137635.1:n.326+1209G>T
NR_137636.1:n.1851+1209G>T
NM_000055.4:c.1684+1209G>T MANE Select	NP_000046.1:n.1684+1209G>T
NR_137635.2:n.277+1209G>T
NR_137636.2:n.1802+1209G>T