Canonical Allele Identifier: CA2668432418

Gene: BCHE

Linked Data

• gnomAD v4: 3-165831039-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831039T>G , CM000665.2:g.165831039T>G	GRCh38
NC_000003.11:g.165548827T>G , CM000665.1:g.165548827T>G	GRCh37
NC_000003.10:g.167031521T>G	NCBI36
NG_009031.1:g.11427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.-6A>C MANE Select	ENSP00000264381.3:n.-6A>C
ENST00000264381.7:c.-6A>C	ENSP00000264381.3:n.-6A>C
ENST00000479451.5:c.107+6275A>C	ENSP00000418325.1:n.107+6275A>C
ENST00000482958.1:c.-6A>C	ENSP00000419804.1:n.-6A>C
ENST00000488954.1:c.107+6275A>C	ENSP00000418504.1:n.107+6275A>C
ENST00000497011.5:c.-6A>C	ENSP00000419505.1:n.-6A>C
NM_000055.2:c.-6A>C	NP_000046.1:n.-6A>C
XM_005247685.1:c.118A>C	XP_005247742.1:p.Ile40Leu
NM_000055.3:c.-6A>C	NP_000046.1:n.-6A>C
NR_137635.1:n.159+6275A>C
NR_137636.1:n.162A>C
NM_000055.4:c.-6A>C MANE Select	NP_000046.1:n.-6A>C
NR_137635.2:n.110+6275A>C
NR_137636.2:n.113A>C