Canonical Allele Identifier: CA2577951575

Gene: BCHE

Linked Data

• gnomAD v4: 3-165773315-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773315A>G , CM000665.2:g.165773315A>G	GRCh38
NC_000003.11:g.165491103A>G , CM000665.1:g.165491103A>G	GRCh37
NC_000003.10:g.166973797A>G	NCBI36
NG_009031.1:g.69151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*67T>C MANE Select	ENSP00000264381.3:n.*67T>C
ENST00000264381.7:c.*67T>C	ENSP00000264381.3:n.*67T>C
ENST00000479451.5:c.466T>C	ENSP00000418325.1:n.466T>C
ENST00000482958.1:c.*382T>C	ENSP00000419804.1:n.*382T>C
ENST00000497011.5:c.*266T>C	ENSP00000419505.1:n.*266T>C
NM_000055.2:c.*67T>C	NP_000046.1:n.*67T>C
XM_005247685.1:c.*67T>C	XP_005247742.1:n.*67T>C
NM_000055.3:c.*67T>C	NP_000046.1:n.*67T>C
NR_137635.1:n.518T>C
NR_137636.1:n.2122T>C
NM_000055.4:c.*67T>C MANE Select	NP_000046.1:n.*67T>C
NR_137635.2:n.469T>C
NR_137636.2:n.2073T>C