Canonical Allele Identifier: CA2692331

Gene: BCHE

Linked Data

• dbSNP Id: rs767306248
• ExAC: 3:165547479 T / G
• gnomAD v2: 3-165547479-T-G
• gnomAD v4: 3-165829691-T-G
• MyVariant Identifiers: chr3:g.165547479T>G (hg19) ; chr3:g.165829691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829691T>G , CM000665.2:g.165829691T>G	GRCh38
NC_000003.11:g.165547479T>G , CM000665.1:g.165547479T>G	GRCh37
NC_000003.10:g.167030173T>G	NCBI36
NG_009031.1:g.12775A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1343A>C MANE Select	ENSP00000264381.3:p.Tyr448Ser
ENST00000264381.7:c.1343A>C	ENSP00000264381.3:p.Tyr448Ser
ENST00000479451.5:c.107+7623A>C	ENSP00000418325.1:n.107+7623A>C
ENST00000482958.1:c.1343A>C	ENSP00000419804.1:p.Tyr448Ser
ENST00000488954.1:c.107+7623A>C	ENSP00000418504.1:n.107+7623A>C
ENST00000497011.5:c.1343A>C	ENSP00000419505.1:p.Tyr448Ser
NM_000055.2:c.1343A>C	NP_000046.1:p.Tyr448Ser
XM_005247685.1:c.1466A>C	XP_005247742.1:p.Tyr489Ser
NM_000055.3:c.1343A>C	NP_000046.1:p.Tyr448Ser
NR_137635.1:n.159+7623A>C
NR_137636.1:n.1510A>C
NM_000055.4:c.1343A>C MANE Select	NP_000046.1:p.Tyr448Ser
NR_137635.2:n.110+7623A>C
NR_137636.2:n.1461A>C