Canonical Allele Identifier: CA2692501

Gene: BCHE

Linked Data

• ClinVar Variation Id: 554917
• ClinVar RCV Id: RCV000670633 ; RCV003226360
• dbSNP Id: rs747598704
• ExAC: 3:165548363 T / A
• gnomAD v2: 3-165548363-T-A
• gnomAD v3: 3-165830575-T-A
• gnomAD v4: 3-165830575-T-A
• MyVariant Identifiers: chr3:g.165548363T>A (hg19) ; chr3:g.165830575T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830575T>A , CM000665.2:g.165830575T>A	GRCh38
NC_000003.11:g.165548363T>A , CM000665.1:g.165548363T>A	GRCh37
NC_000003.10:g.167031057T>A	NCBI36
NG_009031.1:g.11891A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.459A>T MANE Select	ENSP00000264381.3:p.Leu153Phe
ENST00000264381.7:c.459A>T	ENSP00000264381.3:p.Leu153Phe
ENST00000479451.5:c.107+6739A>T	ENSP00000418325.1:n.107+6739A>T
ENST00000482958.1:c.459A>T	ENSP00000419804.1:p.Leu153Phe
ENST00000488954.1:c.107+6739A>T	ENSP00000418504.1:n.107+6739A>T
ENST00000497011.5:c.459A>T	ENSP00000419505.1:p.Leu153Phe
NM_000055.2:c.459A>T	NP_000046.1:p.Leu153Phe
XM_005247685.1:c.582A>T	XP_005247742.1:p.Leu194Phe
NM_000055.3:c.459A>T	NP_000046.1:p.Leu153Phe
NR_137635.1:n.159+6739A>T
NR_137636.1:n.626A>T
NM_000055.4:c.459A>T MANE Select	NP_000046.1:p.Leu153Phe
NR_137635.2:n.110+6739A>T
NR_137636.2:n.577A>T