Canonical Allele Identifier: CA2692585

Gene: BCHE

Linked Data

• dbSNP Id: rs377659208
• ExAC: 3:165548836 G / T
• gnomAD v2: 3-165548836-G-T
• gnomAD v3: 3-165831048-G-T
• gnomAD v4: 3-165831048-G-T
• MyVariant Identifiers: chr3:g.165548836G>T (hg19) ; chr3:g.165831048G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831048G>T , CM000665.2:g.165831048G>T	GRCh38
NC_000003.11:g.165548836G>T , CM000665.1:g.165548836G>T	GRCh37
NC_000003.10:g.167031530G>T	NCBI36
NG_009031.1:g.11418C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.-8-7C>A MANE Select	ENSP00000264381.3:n.-8-7C>A
ENST00000264381.7:c.-8-7C>A	ENSP00000264381.3:n.-8-7C>A
ENST00000479451.5:c.107+6266C>A	ENSP00000418325.1:n.107+6266C>A
ENST00000482958.1:c.-8-7C>A	ENSP00000419804.1:n.-8-7C>A
ENST00000488954.1:c.107+6266C>A	ENSP00000418504.1:n.107+6266C>A
ENST00000497011.5:c.-8-7C>A	ENSP00000419505.1:n.-8-7C>A
NM_000055.2:c.-8-7C>A	NP_000046.1:n.-8-7C>A
XM_005247685.1:c.116-7C>A	XP_005247742.1:n.116-7C>A
NM_000055.3:c.-8-7C>A	NP_000046.1:n.-8-7C>A
NR_137635.1:n.159+6266C>A
NR_137636.1:n.160-7C>A
NM_000055.4:c.-8-7C>A MANE Select	NP_000046.1:n.-8-7C>A
NR_137635.2:n.110+6266C>A
NR_137636.2:n.111-7C>A