Canonical Allele Identifier: CA355110118

Gene: BCHE

Linked Data

• dbSNP Id: rs1712940367
• gnomAD v4: 3-165786155-C-G
• MyVariant Identifiers: chr3:g.165503943C>G (hg19) ; chr3:g.165786155C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786155C>G , CM000665.2:g.165786155C>G	GRCh38
NC_000003.11:g.165503943C>G , CM000665.1:g.165503943C>G	GRCh37
NC_000003.10:g.166986637C>G	NCBI36
NG_009031.1:g.56311G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1674G>C MANE Select	ENSP00000264381.3:p.Leu558Phe
ENST00000264381.7:c.1674G>C	ENSP00000264381.3:p.Leu558Phe
ENST00000479451.5:c.264G>C	ENSP00000418325.1:p.Leu88Phe
ENST00000482958.1:c.*180G>C	ENSP00000419804.1:n.*180G>C
ENST00000488954.1:c.264G>C	ENSP00000418504.1:p.Leu88Phe
ENST00000497011.5:c.1674G>C	ENSP00000419505.1:p.Leu558Phe
NM_000055.2:c.1674G>C	NP_000046.1:p.Leu558Phe
XM_005247685.1:c.1797G>C	XP_005247742.1:p.Leu599Phe
NM_000055.3:c.1674G>C	NP_000046.1:p.Leu558Phe
NR_137635.1:n.316G>C
NR_137636.1:n.1841G>C
NM_000055.4:c.1674G>C MANE Select	NP_000046.1:p.Leu558Phe
NR_137635.2:n.267G>C
NR_137636.2:n.1792G>C