Canonical Allele Identifier: CA355113846

Gene: BCHE

Linked Data

• dbSNP Id: rs1712333351
• gnomAD v3: 3-165773419-T-C
• gnomAD v4: 3-165773419-T-C
• MyVariant Identifiers: chr3:g.165491207T>C (hg19) ; chr3:g.165773419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773419T>C , CM000665.2:g.165773419T>C	GRCh38
NC_000003.11:g.165491207T>C , CM000665.1:g.165491207T>C	GRCh37
NC_000003.10:g.166973901T>C	NCBI36
NG_009031.1:g.69047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1772A>G MANE Select	ENSP00000264381.3:p.Asp591Gly
ENST00000264381.7:c.1772A>G	ENSP00000264381.3:p.Asp591Gly
ENST00000479451.5:c.362A>G	ENSP00000418325.1:p.Asp121Gly
ENST00000482958.1:c.*278A>G	ENSP00000419804.1:n.*278A>G
ENST00000497011.5:c.*162A>G	ENSP00000419505.1:n.*162A>G
NM_000055.2:c.1772A>G	NP_000046.1:p.Asp591Gly
XM_005247685.1:c.1895A>G	XP_005247742.1:p.Asp632Gly
NM_000055.3:c.1772A>G	NP_000046.1:p.Asp591Gly
NR_137635.1:n.414A>G
NR_137636.1:n.2018A>G
NM_000055.4:c.1772A>G MANE Select	NP_000046.1:p.Asp591Gly
NR_137635.2:n.365A>G
NR_137636.2:n.1969A>G