Canonical Allele Identifier: CA355110242

Gene: BCHE

Linked Data

• dbSNP Id: rs1712944581
• gnomAD v3: 3-165786214-T-C
• gnomAD v4: 3-165786214-T-C
• MyVariant Identifiers: chr3:g.165504002T>C (hg19) ; chr3:g.165786214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786214T>C , CM000665.2:g.165786214T>C	GRCh38
NC_000003.11:g.165504002T>C , CM000665.1:g.165504002T>C	GRCh37
NC_000003.10:g.166986696T>C	NCBI36
NG_009031.1:g.56252A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1615A>G MANE Select	ENSP00000264381.3:p.Met539Val
ENST00000264381.7:c.1615A>G	ENSP00000264381.3:p.Met539Val
ENST00000479451.5:c.205A>G	ENSP00000418325.1:p.Met69Val
ENST00000482958.1:c.*121A>G	ENSP00000419804.1:n.*121A>G
ENST00000488954.1:c.205A>G	ENSP00000418504.1:p.Met69Val
ENST00000497011.5:c.1615A>G	ENSP00000419505.1:p.Met539Val
NM_000055.2:c.1615A>G	NP_000046.1:p.Met539Val
XM_005247685.1:c.1738A>G	XP_005247742.1:p.Met580Val
NM_000055.3:c.1615A>G	NP_000046.1:p.Met539Val
NR_137635.1:n.257A>G
NR_137636.1:n.1782A>G
NM_000055.4:c.1615A>G MANE Select	NP_000046.1:p.Met539Val
NR_137635.2:n.208A>G
NR_137636.2:n.1733A>G