Canonical Allele Identifier: CA2668409037

Gene: BCHE

Linked Data

• gnomAD v4: 3-165773325-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773325T>C , CM000665.2:g.165773325T>C	GRCh38
NC_000003.11:g.165491113T>C , CM000665.1:g.165491113T>C	GRCh37
NC_000003.10:g.166973807T>C	NCBI36
NG_009031.1:g.69141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*57A>G MANE Select	ENSP00000264381.3:n.*57A>G
ENST00000264381.7:c.*57A>G	ENSP00000264381.3:n.*57A>G
ENST00000479451.5:c.456A>G	ENSP00000418325.1:n.456A>G
ENST00000482958.1:c.*372A>G	ENSP00000419804.1:n.*372A>G
ENST00000497011.5:c.*256A>G	ENSP00000419505.1:n.*256A>G
NM_000055.2:c.*57A>G	NP_000046.1:n.*57A>G
XM_005247685.1:c.*57A>G	XP_005247742.1:n.*57A>G
NM_000055.3:c.*57A>G	NP_000046.1:n.*57A>G
NR_137635.1:n.508A>G
NR_137636.1:n.2112A>G
NM_000055.4:c.*57A>G MANE Select	NP_000046.1:n.*57A>G
NR_137635.2:n.459A>G
NR_137636.2:n.2063A>G