Canonical Allele Identifier: CA436818480

Gene: BCHE

Linked Data

• dbSNP Id: rs1211627854
• gnomAD v2: 3-165503991-T-C
• gnomAD v4: 3-165786203-T-C
• MyVariant Identifiers: chr3:g.165503991T>C (hg19) ; chr3:g.165786203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786203T>C , CM000665.2:g.165786203T>C	GRCh38
NC_000003.11:g.165503991T>C , CM000665.1:g.165503991T>C	GRCh37
NC_000003.10:g.166986685T>C	NCBI36
NG_009031.1:g.56263A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1626A>G MANE Select	ENSP00000264381.3:p.Leu542=
ENST00000264381.7:c.1626A>G	ENSP00000264381.3:p.Leu542=
ENST00000479451.5:c.216A>G	ENSP00000418325.1:p.Leu72=
ENST00000482958.1:c.*132A>G	ENSP00000419804.1:n.*132A>G
ENST00000488954.1:c.216A>G	ENSP00000418504.1:p.Leu72=
ENST00000497011.5:c.1626A>G	ENSP00000419505.1:p.Leu542=
NM_000055.2:c.1626A>G	NP_000046.1:p.Leu542=
XM_005247685.1:c.1749A>G	XP_005247742.1:p.Leu583=
NM_000055.3:c.1626A>G	NP_000046.1:p.Leu542=
NR_137635.1:n.268A>G
NR_137636.1:n.1793A>G
NM_000055.4:c.1626A>G MANE Select	NP_000046.1:p.Leu542=
NR_137635.2:n.219A>G
NR_137636.2:n.1744A>G