Canonical Allele Identifier: CA355110238

Gene: BCHE

Linked Data

• dbSNP Id: rs1712944478
• gnomAD v3: 3-165786213-A-C
• gnomAD v4: 3-165786213-A-C
• MyVariant Identifiers: chr3:g.165504001A>C (hg19) ; chr3:g.165786213A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786213A>C , CM000665.2:g.165786213A>C	GRCh38
NC_000003.11:g.165504001A>C , CM000665.1:g.165504001A>C	GRCh37
NC_000003.10:g.166986695A>C	NCBI36
NG_009031.1:g.56253T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1616T>G MANE Select	ENSP00000264381.3:p.Met539Arg
ENST00000264381.7:c.1616T>G	ENSP00000264381.3:p.Met539Arg
ENST00000479451.5:c.206T>G	ENSP00000418325.1:p.Met69Arg
ENST00000482958.1:c.*122T>G	ENSP00000419804.1:n.*122T>G
ENST00000488954.1:c.206T>G	ENSP00000418504.1:p.Met69Arg
ENST00000497011.5:c.1616T>G	ENSP00000419505.1:p.Met539Arg
NM_000055.2:c.1616T>G	NP_000046.1:p.Met539Arg
XM_005247685.1:c.1739T>G	XP_005247742.1:p.Met580Arg
NM_000055.3:c.1616T>G	NP_000046.1:p.Met539Arg
NR_137635.1:n.258T>G
NR_137636.1:n.1783T>G
NM_000055.4:c.1616T>G MANE Select	NP_000046.1:p.Met539Arg
NR_137635.2:n.209T>G
NR_137636.2:n.1734T>G