Canonical Allele Identifier: CA10617958

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773330T>C , CM000665.2:g.165773330T>C	GRCh38
NC_000003.11:g.165491118T>C , CM000665.1:g.165491118T>C	GRCh37
NC_000003.10:g.166973812T>C	NCBI36
NG_009031.1:g.69136A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*52A>G MANE Select	ENSP00000264381.3:n.*52A>G
ENST00000264381.7:c.*52A>G	ENSP00000264381.3:n.*52A>G
ENST00000479451.5:c.451A>G	ENSP00000418325.1:n.451A>G
ENST00000482958.1:c.*367A>G	ENSP00000419804.1:n.*367A>G
ENST00000497011.5:c.*251A>G	ENSP00000419505.1:n.*251A>G
NM_000055.2:c.*52A>G	NP_000046.1:n.*52A>G
XM_005247685.1:c.*52A>G	XP_005247742.1:n.*52A>G
NM_000055.3:c.*52A>G	NP_000046.1:n.*52A>G
NR_137635.1:n.503A>G
NR_137636.1:n.2107A>G
NM_000055.4:c.*52A>G MANE Select	NP_000046.1:n.*52A>G
NR_137635.2:n.454A>G
NR_137636.2:n.2058A>G