Canonical Allele Identifier: CA2692500

Gene: BCHE

Linked Data

• dbSNP Id: rs780821820
• ExAC: 3:165548359 C / T
• gnomAD v2: 3-165548359-C-T
• gnomAD v3: 3-165830571-C-T
• gnomAD v4: 3-165830571-C-T
• MyVariant Identifiers: chr3:g.165548359C>T (hg19) ; chr3:g.165830571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830571C>T , CM000665.2:g.165830571C>T	GRCh38
NC_000003.11:g.165548359C>T , CM000665.1:g.165548359C>T	GRCh37
NC_000003.10:g.167031053C>T	NCBI36
NG_009031.1:g.11895G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.463G>A MANE Select	ENSP00000264381.3:p.Val155Ile
ENST00000264381.7:c.463G>A	ENSP00000264381.3:p.Val155Ile
ENST00000479451.5:c.107+6743G>A	ENSP00000418325.1:n.107+6743G>A
ENST00000482958.1:c.463G>A	ENSP00000419804.1:p.Val155Ile
ENST00000488954.1:c.107+6743G>A	ENSP00000418504.1:n.107+6743G>A
ENST00000497011.5:c.463G>A	ENSP00000419505.1:p.Val155Ile
NM_000055.2:c.463G>A	NP_000046.1:p.Val155Ile
XM_005247685.1:c.586G>A	XP_005247742.1:p.Val196Ile
NM_000055.3:c.463G>A	NP_000046.1:p.Val155Ile
NR_137635.1:n.159+6743G>A
NR_137636.1:n.630G>A
NM_000055.4:c.463G>A MANE Select	NP_000046.1:p.Val155Ile
NR_137635.2:n.110+6743G>A
NR_137636.2:n.581G>A